Podcasts about Duchenne

El Papa León XIV visita Canarias, donde se reúne con migrantes en Arguineguín y Tenerife, y lanza un contundente mensaje a Europa y al mundo sobre la inmigración, instando a no acostumbrarse a la muerte en el Atlántico y el Mediterráneo. Se destacan las emotivas historias de Pa, un migrante gambiano, y de Ignacio, un niño con distrofia muscular de Duchenne cuya operación milagrosa se produce tras las oraciones del Papa. En el ámbito político-judicial, se revelan las joyas de Zapatero, valoradas en 1.3 millones de euros, y las reuniones de "Lady 10" con Ábalos para proteger a Sánchez, así como sus encuentros con la Fiscalía General, que generan indignación y peticiones de dimisión. El Congreso, por su parte, da el primer paso para blindar la ley de eutanasia, con la oposición de PP, VOX y UPN, quienes defienden la prudencia y los cuidados paliativos, en un debate que coincide con el discurso del Papa en defensa de la vida. A nivel internacional, Donald Trump anuncia un principio de ...

Darrel Jr., who lives with Duchenne muscular dystrophy and was the recipient of a heart transplant. Their story spans nearly three decades of parenting, caregiving, navigating challenges, celebrating milestones, and learning how to find joy in almost every situation. With warmth, humor, and honesty, Darrel and Chaikia share what they've learned about partnership, resilience, faith, and raising a son who continues to inspire them every day. From funny family stories to lessons learned along the way, this conversation is like sitting around the kitchen table with friends. Whether you're a parent, caregiver, or simply someone who appreciates stories about love, family, and perseverance, you'll walk away from this episode encouraged. We hope you enjoy this conversation with two genuine and joyful people.

We love to hear from our listeners. Send us a message.This is Episode 1 of a four-episode in vivo-focused special series of Cell & Gene: The Podcast. Host Erin Harris speaks with Cassie Gorsuch, Ph.D., CSO at Precision Biosciences, about the rapid evolution of in vivo gene editing and the scientific, translational, and regulatory hurdles shaping the field. Dr. Gorsuch discusses how Precision Biosciences approaches in vivo therapeutic development through its Arcus platform, with programs targeting chronic hepatitis B and Duchenne muscular dystrophy. They cover the broader challenges facing in vivo gene editing, including delivery limitations outside the liver, balancing specificity and efficiency, mitigating off-target risks, and translating promising preclinical in vivo data into clinical success.Subscribe to the podcast!Apple  |  Spotify |  YouTubeVisit my website: Cell & GeneConnect with me on LinkedIn

Viral Video of Policemen assaulting a citizen, Student Fundraiser for kids with Duchenne muscular dystrophy, Independence Day, Arrest of Deputy Head of State Security Service, Georgia's role as a transit hub at risk.Thanks for tuning in!Let us know what you think and what we can improve on by emailing us at info@rorshok.com Like what you hear? Subscribe, share, and tell your buds.Video of Policemen assaulting a citizen: https://www.facebook.com/watch/?v=835745415874754 Trump Tower in Georgia to be built on land part-owned by the son of a US sanctioned leader: https://www.theguardian.com/world/2026/may/25/trump-tower-georgia-tbilisi-land-part-owned-son-us-sanctions-leader?CMP=share_btn_urlDemocracy Dies in H.R.:https://www.nytimes.com/2026/05/18/world/americas/actually-democracy-dies-in-hr.html?smid=nytcore-ios-shareWill Armenia–Azerbaijan peace spell the end of Georgia's transit monopoly?: https://oc-media.org/will-armenia-azerbaijan-peace-spell-the-end-of-georgias-transit-monopoly/ Check out our new t-shirts: https://rorshok.store/We want to get to know you! Please fill in this mini-survey: https://forms.gle/NV3h5jN13cRDp2r66Wanna avoid ads and help us financially? Follow the link: https://bit.ly/rorshok-donate

Se trata de una obra que pone voz a la realidad de miles de personas cuidadoras, especialmente mujeres, atrapadas entre la entrega, el amor y el desgaste emocional.Hablamos con la autora sobre la falta de visibilidad de los cuidados, el peso que sigue recayendo sobre las mujeres, las consecuencias psicológicas y económicas de cuidar durante años y la necesidad de que las administraciones comprendan mejor la realidad de las familias con enfermedades degenerativas. También reflexionamos sobre cómo cambia una familia ante un diagnóstico como la distrofia muscular de Duchenne y sobre la importancia de aprender a cuidar sin dejar de cuidarse.

FDA Commissioner Marty Makary officially resigned last week following reports of his ouster. Then, the acting directors for the agency's two main review units also left their posts, as did the FDA chief of staff and chief AI officer. Domino effect aside, the reaction from the industry has been mostly positive, given Makary's tumultuous reign. But he might be hard to replace. If it were up to the biotech industry, former longtime oncology regulator and short-lived CDER director Richard Pazdur would take the role. For now, FDA Deputy Commissioner for Food Kyle Diamantas is in charge.Eli Lilly's David Ricks was the highest paid pharma CEO last year, but J&J's Joaquín Duato made the most relative to rank-and-file employees, with a median pay ratio of 358 to one. He was on the top of BioSpace's list last year, too, with a ratio of 293 to 1. Last month, Revolution Medicines' RAS inhibitor doubled survival in a Phase 3 pancreatic cancer trial. This week, Truist Securities went so far as to nominate RevMed as “the next oncology titan,” a title currently held by Merck and its blockbuster cancer drug Keytruda. Safety continues to challenge the gene therapy space, especially in Duchenne muscular dystrophy. Late last week, REGENXBIO announced mixed results from a Phase 3 program—the gene therapy did lead to functional improvements, but two serious adverse events caused the stock to drop 37%.Finally, Amgen's rare disease drug Tavneos continues to face scrutiny. Last month, the FDA alleged that doctored data were filed to support Tavneos' initial approval. Now, it's been linked to 20 deaths in Japan.

This week I sit down with Paula Naughton from Roscommon, mum to three boys Archie, George, and Isaac. All three were diagnosed with Duchenne muscular dystrophy (DMD, a life-limiting illness with no cure.Sadly Paula lost her son Archie at just 16 years old. George and Isaac, now also 16, continue to live with the condition as their family fights tirelessly for access to emerging treatments and trials.In this deeply moving conversation, Paula speaks about grief in all its forms, the loss of Archie, the heartbreak of watching your children lose their health, and the reality of living with anticipatory grief while still trying to hold hope.Paula speaks with incredible honesty, strength, and insight about motherhood, resilience, advocacy, and the unimaginable balancing act of loving fiercely while living with uncertainty every day.To learn more about DMD and support the family's campaign, visit:

Text Us!In this episode, we talk to Dr. Tye Martin about his life with Duchenne muscular dystrophy, his academic career, and what it's like living with a disability.You can follow Tye on Instagram @dr.tyedmartin or subscribe to his podcast The TYEPOD HERE.Please subscribe, leave a review, and follow us on social media to know about upcoming episodes and to participate in this podcast.Instagram - @raisingdisabledpodcastFacebook - Raising Disabled Podcast

Good morning from Pharma Daily: the podcast that brings you the most important developments in the pharmaceutical and biotech world. Today, we're diving into some of the latest news shaping the industry, from breakthroughs in cancer therapies to advancements in AI-driven drug discovery. Starting with regulatory updates, the potential appointment of Richard Pazdur, M.D., as the new FDA Commissioner is causing quite a stir. Following Marty Makary's resignation, Pazdur has emerged as a prominent candidate due to his extensive background in oncology drug regulation. Known for his commitment to accelerating cancer therapy approvals, his potential leadership could maintain or even amplify the focus on expediting innovative treatments for cancer patients. In a significant regulatory achievement, Beone Medicines celebrated the FDA's approval of Beqalzi, marking it as the first BCL-2 inhibitor approved for mantle cell lymphoma. This approval challenges AbbVie's Venclexta and underscores a growing trend towards targeted cancer therapies that offer new treatment avenues for patients. The oncology space continues to be fiercely competitive, with companies striving to deliver more precise and effective cancer treatments. Turning to clinical trials, AstraZeneca's Imfinzi has shown promising results in a phase 3 trial focused on bladder cancer patients who are not eligible for cisplatin-based chemotherapy. These findings position Imfinzi as a strong competitor to Merck's Keytruda and reinforce AstraZeneca's strategic focus on expanding its oncology portfolio through novel combinations and indications. In the realm of genetic therapies, Regenxbio has achieved a milestone with its gene therapy for Duchenne muscular dystrophy. This therapy met its primary endpoint in pivotal trials, highlighting the potential of gene therapies to address rare diseases with limited treatment options. Such successes are likely to encourage further investment in gene editing technologies, which hold significant promise for tackling conditions once deemed untreatable. The FDA is also exploring frameworks to repurpose existing drugs for new uses by leveraging existing safety data. This could streamline drug development processes and offer cost-effective solutions for patients with complex conditions. However, this approach will need rigorous validation of efficacy in new indications to ensure patient safety and therapeutic effectiveness. Despite setbacks in its Alzheimer's research, Biogen remains steadfast in its efforts. While their tau-targeting candidate did not meet primary endpoints in a phase 2 trial, reductions in tau pathology and cognitive benefits were observed. This perseverance showcases Biogen's commitment to finding innovative approaches to tackle Alzheimer's disease despite ongoing challenges. On the operational front, Taiwan's Bora Group is acquiring Macrogenics' CDMO operations for up to $127.5 million. This move reflects a broader trend of consolidation within the CDMO space as companies aim to enhance their production capabilities and streamline operations. Quality control remains a critical concern as evidenced by Sun Pharma's recent recall of a chemotherapy batch due to glass particle contamination. Incidents like these underline the importance of stringent quality assurance measures throughout the manufacturing process to ensure patient safety. Moreover, Viz.ai has launched an AI-powered pulmonary care platform aimed at integrating acute and chronic care workflows. This development signals an increasing adoption of artificial intelligence in healthcare, promising improvements in diagnostics and patient management efficiency. AI continues to gain traction as Isomorphic Labs recently secured $2.1 billion in Series B funding aimed at enhancing AI-driven drug design models. Similarly, Charles River has introduced an AI-powered digital pathology platform poised to Support the show

On this week's episode, Sam Fazeli, Josh Schimmer, Eric Schmidt, and Tess Cameron kickoff with deals, highlighting the up to $15.2B Hengrui–BMS partnership and the broader trend of outsourcing early-stage drug development to China. The discussion continues with the co-hosts noting China's edge in speed, quality, and cost-efficiency, while underscoring that the strength of U.S. capital markets remains a key advantage. This week also saw a significant raise, with Isomorphic Labs announcing a $2.1B Series B. In regulatory news, the group described the departure of FDA Commissioner Dr. Marty Makary as creating fresh uncertainty around FDA leadership and direction as they speculated on his exit and who will replace him. On the data front, Regenxbio met the primary endpoint inits Phase 3 trial for Duchenne, though the hosts flagged potential investor skepticism around the side effects, limited data, and FDA uncertainty. Next, they discuss that Biogen and Ionis are advancing their Alzheimer's tau program despite mixed results. The co-hosts also mention Inhibrx's Phase 2 data in head and neck squamous cell carcinoma, as well as Moderna's Hantavirus vaccine research following the recent cruise ship outbreak. The episode concludes with a look ahead to upcoming conferences, including ASCO, ADA, and ATS. *This episode aired on May 15, 2026.

Anna and Tom Vockeroth joined Mike Stubbs to talk about their son Spencer and Spencer's Village Walk in support of the goal to Defeat Duchenne Muscular Dystrophy.

Good morning from Pharma Daily: the podcast that brings you the most important developments in the pharmaceutical and biotech world. Today's episode delves into a range of significant industry updates, spotlighting scientific advancements, regulatory challenges, and strategic movements that are shaping the future of drug development and patient care. The pharmaceutical landscape is often marked by rapid changes, as evidenced by recent reports indicating President Donald Trump's plan to dismiss FDA Commissioner Marty Makary. This potential leadership change is set against a backdrop of controversies during Makary's tenure, including the rejection of Replimune's advanced melanoma therapy, RP1. This therapy was designed as an oncolytic immunotherapy using a genetically modified herpes simplex virus to target and destroy cancer cells. The FDA's rejection of RP1 ignited debate over the agency's decision-making processes, which some critics view as inconsistent and lacking transparency. Such decisions can have profound implications—delaying patient access to critical treatments and affecting company financials and market dynamics. Furthermore, internal discord at the FDA during Makary's leadership period underscores the importance of stable leadership in maintaining efficiency and fostering scientific rigor. Turning to corporate developments, Gilead Sciences has revised its first-year sales forecast for YezTugo, its long-acting PrEP injection for HIV prevention. The company now projects revenues to reach $1 billion, reflecting strong market uptake. This adjustment highlights the growing demand for innovative PrEP solutions as part of broader HIV prevention strategies. Meanwhile, Daiichi Sankyo is grappling with a $610 million profit setback due to an overextension in their manufacturing capabilities for antibody-drug conjugates (ADCs). This situation illustrates the financial risks inherent in scaling production within rapidly evolving therapeutic areas like ADCs, where balancing supply and demand remains critical. In legal news, Capricor Therapeutics has initiated a lawsuit against NS Pharma concerning a breach-of-contract over Deramiocel, a Duchenne muscular dystrophy treatment. With an FDA decision pending, this legal battle underscores the complexities of partnerships and contract compliance in advancing neuromuscular therapies. On the regulatory front, Biogen and Eisai are experiencing delays from the FDA regarding their Alzheimer's drug Leqembi. These regulatory hurdles highlight the complex processes that can impact drug rollout timelines significantly. Odyssey Therapeutics' successful $304 million IPO aims to bolster its autoimmune and inflammatory disease pipeline. This reflects robust investor interest in biotech firms with promising therapeutic candidates addressing high-need areas. In terms of market dynamics, the competition between Novo Nordisk's Wegovy pill and Eli Lilly's Foundayo is reshaping the oral GLP-1 receptor agonist market. A newly launched weekly tracker will monitor prescription trends to provide insights into how these weight-loss solutions are impacting obesity management. Additionally, Johnson & Johnson's efforts to enhance awareness around depression treatment through public health campaigns illustrate how companies are addressing mental health challenges. Advancements in digital health continue with Tether's rollout of medical AI for mobile devices and MedAptus' operational 'command center,' highlighting ongoing innovations poised to transform healthcare delivery by enhancing efficiency and patient engagement. Strategic acquisitions remain a key theme as Angelini Pharma acquires Catalyst Pharmaceuticals for $4.1 billion—a move that expands Angelini's footprint into the U.S. rare neurological drug market. Similarly, Blackstone's $250 million investment in Anagram Therapeutics for cystic fibrosis enzyme replacement therapySupport the show

Across seventeen separate kitchens and living rooms, the same patterns surface. Children who cannot describe their own symptoms have aggressive behaviors read as "just autism" instead of as pain, neuroinflammation, catatonia, or seizure activity. Inside these families, profound autism arrives with company: Whitney on tuberous sclerosis complex, Lydia on type 1 diabetes, Heather on SYNGAP1-related disorder, Jillian on PANS/PANDAS, Erica C. on Duchenne muscular dystrophy, Elena on Lennox-Gastaut syndrome and tonic-clonic seizures, Michelle on gastrointestinal disease. Whitney and Christine describe catatonia severe enough to require electroconvulsive therapy (ECT), a treatment most listeners have never been told is part of profound autism care. The same response keeps coming back from too many clinicians, a psych med and a restraint order in place of a workup. Diagnostic overshadowing has a body count, and these mothers can name it.Three other themes repeat. Trust yourself; you know your child best. Fierce love is a clinical skill. When the system has no service that fits your child, you build one. Mothers in this episode fight schools and therapy centers after their children are harmed or their rights are trampled. Other mothers describe building transportation services, programs, and supports from scratch because no one else would.NCSA exists because this population has been missing from the public conversation about autism. These mothers are the correction.Mother's Day 2026, NCSA released a short reel on the hour from 10am-6pm CT on Facebook and Instagram. We conducted interviews with mothers who had been nominated by the community. This podcast episode is a compilation of the 17 short stories shared. Articles for each mother with more detail will be coming soon on the NCSA website. NCSAutism.orgCHAPTERS:00:00:00 Stephanie00:02:50 Renee00:05:46 Whitney00:08:47 Susan00:10:41 Kim00:12:24 Erica P.00:14:36 Lydia00:16:48 Jen00:19:52 Heather00:23:44 Christine00:27:37 Amy00:29:29 Jillian00:32:43 Keynote: Kiki00:42:11 Erica C.00:45:44 Zuheil00:48:20 Elena00:52:44 Michelle

In this episode of The Grief Lounge, I'm joined by Jack Waddington. Jack is an author, having written his first book after the loss of his brother Sam. I'm on a journey to see you Sam . . Jack is also an artist, who illustrated the cover for the book, and a secondary school teacher. In this episode Jack and I have a deeply honest conversation about sibling grief, loss and the lifelong bond between brothers.Jack shares the story of his brother Sam, who lived with Duchenne muscular dystrophy and died at the age of 26.We talk about what it was like growing up alongside Sam, the role Jack played as a sibling and carer, and how Duchenne shaped not just Sam's life, but the whole family's.This is a conversation about love, responsibility and the kind of connection that does not end with death.Jack speaks openly about the shock of losing his brother, the guilt that can come with sibling loss, and the reality of navigating grief as a young man.We also talk about men's mental health and the importance of creating space for honest conversations around grief, vulnerability and emotion.Writing became a way for Jack to process his loss and stay connected to Sam. His book, I'm on a Journey to See You Sam, is both a tribute to his brother and a way of raising awareness about Duchenne muscular dystrophy, disability and the experience of sibling grief.If you have experienced the loss of a sibling, are supporting someone who has, or want to better understand the impact of Duchenne muscular dystrophy, this conversation offers honesty, insight and connection.More about Jack.Jack is a London-based writer, practising artist, and art teacher. His debut memoir, I'm on a Journey to See You, Sam, began as diary entries written in the days and months after the death of his younger brother, who lived with Duchenne muscular dystrophy. He was also selected for the Local Author Showcase at the 2026 Ealing Book Festival.Alongside writing, Jack creates drawings and paintings, and designed the book's cover artwork himself. He lives in London with his wife. Jack continues to write, teach art, and explore ways to work with keeping his relationship with Sam very much connected. You can follow and connect with Jack on Instagram @jackwaddington_ You can purchase I'm on a journey to see you Sam from Amazon here https://amzn.eu/d/0eadhISAIf you would like to join our Facebook Community page where you will be joined by other navigating grief here is the linkhttps://www.facebook.com/groups/thegrieflounge/My website is www.thegriefloungeuk.com and my instagram account is @the_grief_coach_uk Thank you so much for listening to this episode. Please share the link for the podcast to anyone you may feel would benefit.You do not have to navigate the path of grief alone.

Canberra-based Nepali mother and registered nurse Nirjala Sigdel shares her personal journey after her two-year-old son, Liam, was diagnosed with Duchenne muscular dystrophy (DMD), a rare and progressive genetic disorder that causes muscle degeneration. She describes the diagnosis as a moment when her “world turned upside down.” Sigdel highlights the emotional and practical challenges of caring for a child with a life-limiting condition, while also advocating for access to emerging treatments, including gene therapy, within Australia. Disclaimer: Listener discretion is advised, as the discussion includes references to suicide that may be distressing for some audiences. - क्यान्बरा निवासी निर्जला सिग्देल आफ्नो छोरा लिएममा निकै दुर्लभ मानिने जेनेटिक अवस्था डुशेन मस्कुलर डिस्ट्रोफी (डीएनडी) रहेको थाहा पाउँदा संसारै उल्टिए जस्तो लागेको बताउँछिन्। यो एक गम्भीर र क्रमशः बढ्दै जाने जेनेटिक डिसअर्डर वा जिनमा रहेको एक असामान्य अवस्था हो र यो अवस्था आफ्नो एक्लो सन्तान हाल दुई वर्षका लिएमलाई पनि रहेको थाहा पाउँदाको अनुभव देखि उनी यस रोगको उपचार अस्ट्रेलियामा नै सम्भव होस् भनेर कसरी सक्रिय रूपमा आवाज उठाइरहेकी छिन् भन्ने बारे पेसाले रजिस्टर्ड नर्स रहेकी सिग्देलले बताएकी छिन्। सहकर्मी सुनिता पोखरेलसँग गरिएको कुराकानी प्रस्तुत गर्नु अघि श्रोताहरूलाई। नोट: यो कुराकानी कतिपय श्रोताका लागि विचलित पार्ने किसिमको पनि हुन सक्छ। कुराकानीका क्रममा आत्महत्याको बारेमा पनि उल्लेख गरिएको छ।

Over the past quarter-century, the state of healthcare has changed dramatically, with new cures and treatments becoming available for conditions that have been around for far longer. While there's no cure yet for Duchenne muscular dystrophy, a lot of progress has been made when it comes to research and support, and much of that progress is thanks to the Jett Foundation of Norwell. Eric Snyder, President and CEO, and Maura Carroll, the Director of Development, talk with Nichole about the Foundation's storied history, their efforts, and their upcoming event to celebrate their 25th year.See omnystudio.com/listener for privacy information.

Uniek Sporten Vandaag gemist? Met Fonds Gehandicaptensport directeur Nike Boor als sidekick, sprak Robert Denneman deze aflevering met de gasten over nieuwe workouts bij Uniek Sporten Thuis speciaal voor mensen met Duchenne, blikten ze terug op de afgelopen Venloop en praatten ze bij met Fonds Gehandicaptensport ambassadeur Eva Eikhout. Te gast waren Evelien Fleerakkers, fysiotherapeut en bewegingswetenschapper aan het Leids Universitair Medisch Centrum én trainer op het Uniek Sporten Thuis platform; Ted Kessels, office manager van de Venloop; en uiteraard multitalent Eva Eikhout. Uniek Sporten Vandaag hoor je elke tweede donderdag van de maand tussen 13:00 en 14:00 uur. In een uur tijd wordt je helemaal bijgepraat over alles wat met aangepast sporten te maken heeft. Met het laatste nieuws, interviews en studiogasten, van topsport tot breedtesport. Het programma is live te horen op ALLsportsradio en is na afloop als podcast beschikbaar via de bekende podcastkanalen. Uniek Sporten Vandaag wordt gemaakt in samenwerking met Fonds Gehandicaptensport.

A father sets out on a journey across Slovakia, walking from Košice to Bratislava - not for sport, not for adventure, but to try fundraise money to help save his two-year-old son, William. The boy suffers from Duchenne muscular dystrophy, a rare and devastating disease, and the family is racing against time to access experimental gene treatment. This radio piece follows a father's determination, love, and the extraordinary distance he is willing to walk for hope.

Around 30% of boys diagnosed with Duchenne muscular dystrophy also experience cognitive dysfunction and neurodevelopmental disorders like autism and ADHD. A UT Health San Antonio neuroscientist is doing research he hopes will uncover what is causing these deficits and how they might be treated.

In this episode, we review the high-yield topic of⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Duchenne and Becker Muscular Dystrophy⁠⁠⁠⁠⁠ from the MSK section.Follow⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Medbullets⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ on social media:Facebook: www.facebook.com/medbulletsInstagram: www.instagram.com/medbulletsofficialTwitter: www.twitter.com/medbullets

A conversation with Carol RoopchandsinghHe never stopped fighting. Neither will she.Matthew Roopchandsingh - known to many as Lil Roopie - lived for nearly thirty years with Duchenne Muscular Dystrophy. He built a YouTube channel, designed his own logo, and spent his life reaching out to others with disabilities, telling them never to give up hope. He passed away on November 14th, 2024.His mother, Carol Roopchandsingh, was his caregiver, his advocate, and his guardian. She worked three jobs. She slept in hospital chairs. She fought insurance companies, dismissive doctors, and a system that too often asked: why provide care to someone who will never get better?Today, on our milestone 100th episode, Carol bravely sat with Dr. Fethke to bring Matthew's story out of the shadows - and to make sure his legacy is just beginning.I am honored to introduce Carol Roopchandsingh.—We spoke about the long and painful road to Matthew's Duchenne diagnosis, the systemic failures that denied him the equipment, therapy, and support he needed, the emotional and physical toll of caregiving with no safety net, how Matthew channelled his condition into a platform of advocacy and joy, and Carol's vision for a foundation in his memory - to fight for every person who lives with disability, that the system forgets.Lil Roopie's YouTube Channel: https://www.youtube.com/@lilroopie/featuredFollow me on Instagram and Facebook @ericfethkemd and checkout my website at www.EricFethkeMD.com. My brand new book, The Privilege of Caring, is out now on Amazon! https://www.amazon.com/dp/B0CP6H6QN4

Alpha Clinics in California accelerate the development of regenerative medicine therapies that use cells and genes to treat serious diseases. Patient advocate Tara Radcliffe Ghiglieri shares lived experience with gene therapy, while Sheldon Morris, M.D., M.P.H., Mehrdad Abedi, M.D., Daniela A. Bota, M.D., Ph.D., Catriona Jamieson, M.D., Ph.D., Michael Lewis, M.D., Mark Walters, M.D., and Leo D. Wang, M.D., Ph.D., describe how Alpha Clinic teams design and deliver clinical trials for a wide range of conditions, including cancer, blood disorders, neurologic disease, osteoarthritis, metabolic disorders, pulmonary arterial hypertension, and Duchenne muscular dystrophy. They highlight how coordinated networks, community partnerships, and genomic tools help expand access, lower financial barriers, and bring promising cell and gene therapies to more patients while carefully tracking safety, effectiveness, and long-term outcomes. Series: "Stem Cell Channel" [Health and Medicine] [Show ID: 41168]

Alpha Clinics in California accelerate the development of regenerative medicine therapies that use cells and genes to treat serious diseases. Patient advocate Tara Radcliffe Ghiglieri shares lived experience with gene therapy, while Sheldon Morris, M.D., M.P.H., Mehrdad Abedi, M.D., Daniela A. Bota, M.D., Ph.D., Catriona Jamieson, M.D., Ph.D., Michael Lewis, M.D., Mark Walters, M.D., and Leo D. Wang, M.D., Ph.D., describe how Alpha Clinic teams design and deliver clinical trials for a wide range of conditions, including cancer, blood disorders, neurologic disease, osteoarthritis, metabolic disorders, pulmonary arterial hypertension, and Duchenne muscular dystrophy. They highlight how coordinated networks, community partnerships, and genomic tools help expand access, lower financial barriers, and bring promising cell and gene therapies to more patients while carefully tracking safety, effectiveness, and long-term outcomes. Series: "Stem Cell Channel" [Health and Medicine] [Show ID: 41168]

Alpha Clinics in California accelerate the development of regenerative medicine therapies that use cells and genes to treat serious diseases. Patient advocate Tara Radcliffe Ghiglieri shares lived experience with gene therapy, while Sheldon Morris, M.D., M.P.H., Mehrdad Abedi, M.D., Daniela A. Bota, M.D., Ph.D., Catriona Jamieson, M.D., Ph.D., Michael Lewis, M.D., Mark Walters, M.D., and Leo D. Wang, M.D., Ph.D., describe how Alpha Clinic teams design and deliver clinical trials for a wide range of conditions, including cancer, blood disorders, neurologic disease, osteoarthritis, metabolic disorders, pulmonary arterial hypertension, and Duchenne muscular dystrophy. They highlight how coordinated networks, community partnerships, and genomic tools help expand access, lower financial barriers, and bring promising cell and gene therapies to more patients while carefully tracking safety, effectiveness, and long-term outcomes. Series: "Stem Cell Channel" [Health and Medicine] [Show ID: 41168]

Alpha Clinics in California accelerate the development of regenerative medicine therapies that use cells and genes to treat serious diseases. Patient advocate Tara Radcliffe Ghiglieri shares lived experience with gene therapy, while Sheldon Morris, M.D., M.P.H., Mehrdad Abedi, M.D., Daniela A. Bota, M.D., Ph.D., Catriona Jamieson, M.D., Ph.D., Michael Lewis, M.D., Mark Walters, M.D., and Leo D. Wang, M.D., Ph.D., describe how Alpha Clinic teams design and deliver clinical trials for a wide range of conditions, including cancer, blood disorders, neurologic disease, osteoarthritis, metabolic disorders, pulmonary arterial hypertension, and Duchenne muscular dystrophy. They highlight how coordinated networks, community partnerships, and genomic tools help expand access, lower financial barriers, and bring promising cell and gene therapies to more patients while carefully tracking safety, effectiveness, and long-term outcomes. Series: "Stem Cell Channel" [Health and Medicine] [Show ID: 41168]

In this vulnerable conversation, Mary shares what it truly costs to fight for a full life in a system that too often puts up barriers. She speaks candidly about the exhaustion of proving her son's needs, the quiet ways lack of accessibility shrinks a child's world, and the urgency she feels to create memories. Most of all, she reminds us that her 14-year-old son Eddie is not his diagnosis of Duchenne muscular dystrophy — he's a teenager and a human first. This conversation is raw and deeply human.

Guest: Dr. Thorsten Boroviak is an Assistant Professor at the University of Cambridge and a member of the Cambridge Stem Cell Institute. He discusses how stem cell–based embryo models are helping researchers study early human and primate development, including implantation and gastrulation. He also talks about using primate systems such as marmoset to understand human development, the role of biomechanics and extraembryonic tissues in embryogenesis, and the ethical considerations surrounding embryo models and emerging technologies like in vitro gametogenesis. Featured Products and Resources: Explore a basic overview of organoids and resources to support your organoid culture. Explore STEMCELL Technologies’ collection of technical videos and webinars on neurological disease modeling. The Stem Cell Science Round Up Mitophagy Controls Blood Stem Cells – Embryonic blood stem cells expand while staying multipotent thanks to tightly controlled ROS levels regulated by developmental mitophagy. SLC4A3 Variants Drive Arrhythmia Risk – Mutations in SLC4A3 raise intracellular pH in heart cells, which shortens electrical signals and increases the risk of dangerous arrhythmias. HSC Dynamics After Myeloablation – After chemotherapy, blood stem cells briefly boost differentiation to rebuild the blood system before returning to normal. Modeling Duchenne Cardiomyopathy – Scientists generated heart organoids from Duchenne muscular dystrophy patient stem cells that mimic cardiomyopathy. Photo Reference: Courtesy of Thorsten Boroviak. Subscribe to our newsletter! Never miss updates about new episodes. Subscribe

Good morning from Pharma Daily, the podcast that brings you the most important developments in the pharmaceutical and biotech world. Today, we delve into transformative developments reshaping this dynamic industry, encompassing scientific breakthroughs, strategic investments, and regulatory updates.The pharmaceutical and biotech industries are at a crossroads filled with potential and challenges. A significant trend is the anticipated surge in orphan drug sales, projected to exceed $400 billion by 2032. This growth reflects an intensified focus on rare diseases, capturing increasing interest from investors despite mainstream treatments like those for obesity. The resilience of the rare disease sector, as highlighted in the Evaluate report, underscores its capacity to drive substantial industry growth even amidst regulatory shifts from the FDA.Eli Lilly exemplifies this robust growth within rare diseases, with significant sales increases. However, forecasts suggest a potential slowdown by 2026. In response, Lilly is expanding its global manufacturing capabilities, including a $126 million investment in Japan. This reflects a broader trend among pharmaceutical companies to enhance international infrastructure to meet rising global demand.On the regulatory front, the FDA has introduced a new streamlined system for monitoring adverse events, consolidating seven dashboards into a single platform. This initiative aims to enhance efficiency and save an estimated $120 million over five years, signifying a commitment to refining regulatory processes and improving drug safety monitoring.Despite advancements, challenges persist regarding drug safety and quality control. Eli Lilly has raised concerns about high levels of impurities in compounded tirzepatide knockoffs combined with vitamin B12. This underscores ongoing issues in compounded medications and highlights the critical need for maintaining rigorous quality standards to ensure patient safety and therapeutic efficacy.Corporate restructuring is also reshaping the industry landscape. Evotec's announcement of layoffs affecting 800 employees alongside site closures is part of its reorganization efforts. This move reflects broader trends where companies streamline operations to remain competitive amid changing market conditions.Technological advancements are making significant inroads into drug development processes. Whole genome sequencing (WGS) is increasingly recognized as a transformative tool for complex disease drug development, facilitating targeted therapeutic strategies and paving the way for more personalized medicine approaches.Moreover, automation and artificial intelligence (AI) continue to revolutionize R&D labs. These technologies are altering lab design and fostering scientific collaboration, leading to more efficient discovery processes and innovative drug development approaches.In therapeutic development news, small molecules are experiencing renewed interest in orphan drug research. An analysis by Evaluate shows that nearly half of the top twenty most valuable orphan drugs under development are small molecules, highlighting their potential in addressing unmet needs within rare diseases.Regenxbio has reported promising data for its Duchenne muscular dystrophy gene therapy candidate, showing functional improvements as it approaches key data milestones. Such advancements emphasize the growing role of gene therapies in addressing genetic disorders.BridgeBio Pharma has made noteworthy progress with its muscle weakness drug candidate BBP-418, demonstrating statistically significant efficacy data from a Phase 3 trial. These results strengthen BridgeBio's position ahead of an anticipated FDA filing.Conversely, Kalaris Therapeutics has paused dosing in its eye drug trial due to concerns about ocular inflammation. This pause highlights the critical importance of safety monitoring within clinical trials.USupport the show

a UCL researcher picks up the 2026 Novo Nordisk Prize for work that's shifting Duchenne muscular dystrophy from “nothing we can do” to “we can actually intervene.” Then the UK Space Agency drops fresh cash on satellite comms, because in 2026 even “space” is basically an internet argument. Elsewhere, researchers flip a magnet with a laser like it's casual, a Nature paper raises a big red flag about ancient carbon leaking out through Congo Basin la kes, and there's a quick gaming palate cleanser with League's latest patch. Oh — and Apple's here to remind your laptop it's replaceable. More on all of it at standard.co.uk — and follow Tech and Science Daily from The Standard for your weekday briefing. Hosted on Acast. See acast.com/privacy for more information.

The FDA is dominating the headlines once again thisweek.  Days after FDA Commissioner Marty Makary appeared to question uniQure's gene therapy candidate for Huntington's disease, the company revealed that the agency will require it to conduct a randomized, double-blind, sham surgery–controlled Phase 3 study. The FDA also published anothercomplete response letter (CRL), this one for REGENXBIO's gene therapy for Hunter syndrome. The rejection, sustained by the biotech early last month, was driven by issues with the study's population, controls and use of surrogate markers to measure efficacy, according to the document.  Meanwhile, regulatory experts have expressed concernsthat the FDA's circle of trust is shrinking, making many decisions feel like “fiat”—both in terms of individual drug applications and policy. The FDA has reportedly initiated a probe into complaints that a toxic workplace is fostered by CBER director Vinay Prasad, who is at the heart of many of these decisions. Finally, the biopharma industry continues to react to the agency's pivot from a requirement of two pivotal trials to one for approval, asking why now, what are the risks and what exactly the FDA expects from this one trial.   Still on the gene therapy front, Sarepta Therapeutics CEO Doug Ingram stepped down last week to spend more time with family as the company's muscular dystrophy mission hits home. Also during the company's fourth quarter earnings call, Sarepta projected that sales of its embattled Duchenne muscular dystrophy gene therapy Elevidys will be flat or down as far as 15% in 2026.  On the obesity front, Eli Lilly topped Novo Nordisk again in a weight loss trial, this time in a Lilly-sponsored study of patients with type 2 diabetes. But don't count Novo out yet. The company is actively seeking out new obesity assets, according to business development executive Tamara Darsow. Just last week, Novo linked with Boston'sVivtex to advance novel weight loss pills.Finally, check out BioPham Executive this week for a rundown of 2025's top-selling assets—spoiler: Merck's Keytruda held onto its crown as number one—and a story on former2seventy exec Chip Baird's new role as CEO of recently launched Poplar Therapeutics, which secured a $45 million series A extension this week.

Good morning from Pharma Daily: the podcast that brings you the most important developments in the pharmaceutical and biotech world. Today, we're diving into some pivotal advancements and strategic shifts within the industry, highlighting how these changes are shaping the future of patient care and drug development.Let's start with Bristol Myers Squibb, which has been making headlines with its latest success in the realm of antibody-drug conjugates (ADCs). The company's ADC has reached an important milestone in a Phase 3 breast cancer trial conducted in China. This study successfully met its dual primary survival endpoints, affirming the company's significant $800 million investment in this promising drug candidate. The potential of ADCs in oncology cannot be overstated; they offer a remarkable combination of targeted therapy by harnessing the specificity of antibodies alongside the cytotoxic power of traditional chemotherapy. This approach not only enhances precision in treatment but also minimizes collateral damage to healthy tissues, showcasing the transformative potential of ADCs in cancer therapy.On the regulatory front, there are ongoing discussions about the impact of political decisions on drug pricing and innovation. The Trump administration's Most Favored Nation drug pricing policy has stirred significant concern within the biotech sector. In response, ten midsize biotech firms have united to form the Midsized Biotech Alliance of America to challenge this policy. They argue that such pricing strategies could hinder innovation by enforcing restrictive pricing models, potentially stalling the development pipeline for new therapies that address unmet medical needs.In terms of strategic corporate movements, Boehringer Ingelheim has entered into a $500 million partnership with a British biotech firm aimed at developing an oral therapy for autoimmune diseases. This collaboration is part of a broader trend towards precision medicine which focuses on modulating specific immune cells to improve treatment outcomes while minimizing unwanted side effects. It's a clear indication that companies are increasingly investing in targeted therapies that promise better efficacy and patient safety. Additionally, Boehringer Ingelheim's partnership with Sitryx underscores another trend: strategic partnerships aimed at innovative research endeavors with substantial investment commitments—potentially exceeding $500 million—to explore immune response modulation.The acquisition landscape is also seeing dynamic shifts. Asahi Kasei's acquisition of Germany's AiCuris for $920 million marks a strategic move to enhance its R&D capabilities, specifically focusing on antiviral therapies for immunocompromised patients. This acquisition aligns with growing global attention towards infectious disease research, especially in a post-pandemic era where preparedness and rapid response capabilities have become paramount.Meanwhile, Sarepta Therapeutics is undergoing a significant leadership change as CEO Doug Ingram announces his retirement. Ingram's leadership was characterized by notable advancements in treatments for Duchenne muscular dystrophy (DMD), although it wasn't without its share of challenges regarding regulatory and pricing debates. As Sarepta continues to expand its gene therapy pipeline, this leadership transition comes at a crucial juncture, potentially setting new directions for the company's future.Accent Therapeutics' recent decision to halt its solid tumor trial due to adverse events exemplifies the risks inherent in drug development. The company is now redirecting its focus towards other cancer programs, illustrating how adaptability remains key in navigating clinical setbacks.Protagonist Therapeutics has made a strategic choice by accepting a $400 million payment from Takeda instead of sharing profits from its hematology asset rusfertide. This decision may provideSupport the show

Good morning from Pharma Daily: the podcast that brings you the most important developments in the pharmaceutical and biotech world. Today, we delve into a compelling array of advancements and strategic shifts that are shaping the healthcare landscape across the globe.In recent times, the pharmaceutical and biotech sectors have showcased remarkable resilience and innovation, driving forward with significant scientific breakthroughs and clinical trial results. A standout achievement comes from Novo Nordisk, whose recent Phase 2 trial results for its triple agonist targeting obesity reported a remarkable weight loss of up to 19.7% in patients over 24 weeks. This promising development positions Novo Nordisk as a formidable contender in the obesity treatment market, potentially affecting giants like Eli Lilly. With obesity being a significant global health challenge, these findings underscore the potential of multi-targeted approaches in managing this complex condition.Regulatory landscapes continue to evolve, with pivotal approvals marking milestones for therapies targeting rare diseases. Immedica Pharma's Loargys received FDA approval for treating hyperargininemia associated with arginase 1 deficiency, highlighting perseverance in overcoming regulatory hurdles after a prior rejection. Additionally, Sanofi and Regeneron's Dupixent achieved its ninth FDA approval, underscoring its versatile potential across multiple indications. These approvals not only reflect regulatory progress but also emphasize the critical role of persistence in drug development.Ethical considerations remain at the forefront of industry discussions, particularly highlighted by Novartis' settlement in a lawsuit concerning the use of Henrietta Lacks' cells without consent. This resolution underscores ongoing ethical challenges within biomedical research, emphasizing the need for ethical vigilance as companies increasingly rely on human-derived materials.Significant business trends are shaping strategic directions within the industry. Pfizer's acquisition of marketing rights for Sciwind's GLP-1 receptor agonist in China exemplifies a calculated move to dominate the obesity treatment market. This strategic acquisition allows Pfizer to leverage China's vast market potential for type 2 diabetes medications and positions it favorably for future weight loss treatments.On the manufacturing front, AbbVie has made substantial investments in U.S. infrastructure, committing $380 million to new North Chicago API plants as part of a decade-long strategy to inject $100 billion into U.S. operations. This initiative highlights a commitment to bolstering domestic production capabilities amidst global supply chain uncertainties.The complexities of drug development are further illustrated by Roche's decision to halt the development of Enspryng for Duchenne muscular dystrophy due to unsatisfactory progress. This shift in focus reflects the inherent challenges of drug repurposing and the necessity of robust clinical evidence to support new indications.Geopolitical factors also play a significant role in shaping industry dynamics, with recent U.S. Supreme Court decisions impacting international trade agreements. Such geopolitical influences can significantly affect pharmaceutical companies' operations and strategic planning.The collaboration between Astellas and Vir Biotechnology reflects another significant trend in strategic partnerships within the industry. Their $1.7 billion deal centered on a novel bispecific T-cell engager for prostate cancer underscores the growing importance of immuno-oncology and innovative approaches to targeting hard-to-treat cancers.The regulatory front continues to see transformative changes with the FDA unveiling draft guidance for a new approval pathway tailored for bespoke gene-editing therapies. This initiative could expedite personalized genetic treatments and transform patSupport the show

Welcome to the NeurologyLive® Mind Moments® podcast. Tune in to hear leaders in neurology sound off on topics that impact your clinical practice.In this Mind Moments episode, Jeff Chamberlain, PhD, joins the podcast during Duchenne Muscular Dystrophy Awareness Week to provide clinical and translational perspective on the evolving landscape of DMD biology and therapy. Chamberlain, professor at the University of Washington School of Medicine and Director of the Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center in Seattle, reflects on aspects of Duchenne pathophysiology that may still be underappreciated, including evidence that disease processes begin earlier than once recognized and the growing importance of immunologic factors in shaping progression and therapeutic response. The conversation also explores how neuromuscular specialists should approach treatment timing and combination strategies as gene-targeted therapies expand, the evolving interpretation and limitations of biomarkers such as creatine kinase and dystrophin expression, and what emerging gene therapy platforms may signal for care heading into 2026 and beyond.Looking for more Neuromuscular discussion? Check out the NeurologyLive® Neuromuscular clinical focus page.Episode Breakdown: 1:15 – Underrecognized aspects of DMD pathophysiology, including early onset and immunologic drivers 4:50 – Treatment timing, sequencing, and the rationale for combination strategies 8:00 – Neurology News Minute 10:30 – Clinical trial and real-world implications of dystrophin and CK as biomarkers 16:20 – Anticipated gene therapy innovation and safety considerations heading into 2026 The stories featured in this week's Neurology News Minute, which will give you quick updates on the following developments in neurology, are further detailed here: Regenxbio's MPS II Gene Therapy RGX-121 Hit With CRL FDA Accepts New Drug Application for Orexin Agonist Oveporexton in Narcolepsy Type 1, Grants Priority Review FDA Expands Indication for Pitolisant to Treat Cataplexy in Pediatric Narcolepsy Thanks for listening to the NeurologyLive® Mind Moments® podcast. To support the show, be sure to rate, review, and subscribe wherever you listen to podcasts. For more neurology news and expert-driven content, visit neurologylive.com.

Good morning from Pharma Daily: the podcast that brings you the most important developments in the pharmaceutical and biotech world. Today, we delve into a series of significant events shaping the landscape of drug development, regulatory scrutiny, and industry advancement. As we navigate this complex terrain, we'll explore how these changes impact both companies and patients.In recent news, Moderna has encountered a substantial hurdle as the FDA declined to review its flu vaccine candidate, mRNA-1010. This decision marks a notable shift from the expedited processes witnessed during the COVID-19 pandemic, reflecting a more cautious regulatory approach under current administrative leadership. Analysts suggest this could indicate broader regulatory changes that might affect future vaccine approvals. Moderna's situation is emblematic of the challenges companies face in maintaining momentum post-pandemic, especially as their research and development spending saw a significant decrease of 31% last year due to completed respiratory trials. This reduction highlights a strategic pivot as the company reassesses its priorities amidst an evolving market landscape.Vertex Pharmaceuticals is making headlines with its ambitious revenue goals outside its established cystic fibrosis franchise. By 2026, Vertex aims to generate $500 million from non-CF medications, with recent launches like Casgevy and Journavx already showing promise by collectively bringing in $175.6 million last year. This diversification strategy is critical for mitigating risks associated with dependence on a single therapeutic area and reflects a broader industry trend towards strategic realignment. Additionally, Vertex remains under close observation within kidney disease portfolios, particularly with Povetacicept—an IgA nephropathy treatment—and the success of Journavx impacting market positions by offering chronic kidney disease patients new therapeutic options.PTC Therapeutics has faced setbacks with its FDA application withdrawal for Translarna, intended for treating nonsense mutation Duchenne muscular dystrophy. The decision came after receiving adverse feedback from the FDA, highlighting the complexities involved in gaining approval for therapies targeting intricate genetic conditions. Such hurdles underscore the high-risk nature of biotech ventures that are heavily reliant on regulatory timelines.Novartis is pushing forward with plans to seek full FDA approval for Vanrafia, its IgA nephropathy drug, despite not meeting primary kidney function goals in Phase 3 trials. This move aligns with a growing trend where companies pursue approval based on secondary endpoints or other supportive data when primary outcomes fall short. Such strategies underscore the competitive and high-stakes environment surrounding drug approval pathways.Novo Nordisk is expanding its production capabilities in Ireland to meet increasing demand for Wegovy, their obesity drug that's seen impressive sales in the U.S. This investment underscores the global potential for obesity treatments and highlights how manufacturing expansions are pivotal to supporting international market entry.In Europe, Amgen has secured approval for Uplizna in treating myasthenia gravis, adding another option to an already crowded treatment landscape but offering patients additional therapeutic choices. Meanwhile, AbbVie has launched a legal challenge against Botox's inclusion in drug pricing negotiations under the Inflation Reduction Act (IRA), arguing it should be excluded due to its plasma-derived nature.Ultragenyx has announced a 10% workforce reduction amid halted gene therapy plans and unsuccessful late-stage trials in brittle bone disease. These adjustments often reflect broader strategic shifts within biopharma companies as they realign focus and resources. Ultragenyx's operational challenges highlight the volatile nature of biotech ventureSupport the show

Please enjoy this rare bonus Saturday episode with Stefan Gehrig, founder of KNKG - my favourite gym bag and duffel company.Stefan also holds a PhD in Muscle Biology and worked in research studying muscle wasting disorders before pivoting into entrepreneurship. While he no longer works directly in academia, I didn't want to miss the opportunity to ask valuable questions about his expertise in muscular dystrophy, sarcopenia, and other muscle-wasting conditions.We also discuss the leap from research to building one of the most respected gym bag brands in the world - and what it takes to go all-in on a side hustle.THIS EPISODE COVERS:The story behind founding KNKGPivoting from academic research to entrepreneurshipWhat went into deciding to go all-in on a side hustleWhat muscular dystrophy is and who is at riskOther muscle wasting diseases and their individual and societal impactHow lifestyle affects muscle health and disease riskSarcopenia and age-related muscle lossWhy strength training matters for long-term healthNeurological conditions like ALS and MS and their connection to muscle wastingApplying scientific thinking to businessAnd much moreWe'll both be at the Arnold Sports Festival March 6th and 7th at the KNKG booth — come say hello.If you'd like to grab your own KNKG bag, DM me and I'll send you my 15 percent discount code.Instagram: @knkgCHAPTERS00:16 Meet Stefan Gehrig: KNKG founder, PhD, CrossFit Games athlete01:09 How Andrew became a KNKG superfan (Arnold booth announcement)02:23 KNKG's origin story: from PhD research to building bags since 201104:09 From scientist to founder: CrossFit niche + The 4-Hour Workweek spark05:30 Designing without experience: materials, factories, and manufacturing06:21 What was missing in gym bags: organization, shoe compartments, function08:02 The leap: leaving academia and going all-in on KNKG10:22 Why it worked: timing, runway, and applying the scientific method to business12:27 Arnold Sports Festival + 15% discount details13:38 The 80/20 of KNKG: product development, word-of-mouth, long lead times15:44 Muscular dystrophy explained (Duchenne, risks, treatments)19:07 Staying current in research — and why science is all-consuming20:28 Sarcopenia: age-related muscle loss and why strength training matters25:23 Training for life: resistance + cardio, hybrid programming28:18 ALS & MS: neurological causes of muscle wasting31:01 See you at the Arnold: booth details32:12 Wrap-up: where to follow KNKGSUPPORT THE SHOWIf you enjoyed this bonus episode, you can support the show by:Subscribing and checking out more episodesSharing it on social media (tag me — I will respond)Sending it to someone interested in entrepreneurship or muscle healthFOLLOW ANDREW COATESInstagram: @andrewcoatesfitnesshttps://www.andrewcoatesfitness.comPARTNERS AND RESOURCESRP Strength App (use code COATESRP)https://www.rpstrength.com/coatesJust Bite Me Meals (use code ANDREWCOATESFITNESS for 10 percent off)https://justbitememeals.com/MacrosFirst – FREE Premium TrialDownload MacrosFirstDuring setup, answer: How did you hear about us?Type: ANDREWKNKG Bags (15 percent off — DM for code)Versa Gripps (discount link)https://www.versagripps.com/andrewcoatesTRAINHEROIC – FREE 90 Day Trial (2 steps)Go to: https://www.trainheroic.com/liftfreeReply to the email you receive (or email trials@trainheroic.com) and let them know Andrew sent you

Roche made the biggest splash this week so far, announcing on Tuesday that GLP-1/GIP injectable CT-388 led to 22.5%weight loss in a Phase II trial. These numbers appear to put CT-388, which Roche acquired in its $2.7 billion Carmot buy, in line with Eli Lilly's Zepbound, according to William Blair analysts. Roche plans to start a Phase III study of CT-388 in the first half of this year and is also pairing the drug with a therapy from Zealand Pharma, with the aim of offering a weight lossoption with fewer gastrointestinal side effects. Meanwhile, Baseline Therapeutics debuted to challenge Lilly with a Phase III–ready GLP-1 for alcohol use disorder.  In the vaccines sector, Moderna took perhaps the biggest action to date amid Health Secretary Robert F. Kennedy's anti-vaccine policies and rhetoric, last week announcing that the company will no longer run late-stage vaccine trials for infectious diseases. “You cannot make a return on investment if you don't have access to the U.S. market,” CEO Stéphane Bancel saidthe World Economic Forum at Davos, Switzerland. Pfizer CEO Albert Bourla, also speaking at Davos, called RFK Jr.'s rhetoric and policies on vaccines “anti-science.”  Finally, Sarepta released new data on Monday for Elevidys, the company's embattled gene therapy for neuromuscular disease Duchenne muscular dystrophy. Plus, check out up-and-coming treatments for Alzheimer's and Parkinson's.

On this episode Fred Goldstein invites Steve Kheloussi, PharmD, MBA, FAMCP, Principal Consultant at Kheloussi Consulting, LLC, in the first installment of our four-part series on rare diseases. We discuss a practical overview of Duchenne muscular dystrophy (DMD), the current treatment landscape, and the evidence gaps that complicate payer decision-making. We also touch on the importance of what patients and caregivers need to maintain function, reduce fatigue, and navigate the significant emotional and practical burdens of care. This podcast is supported by an independent medical education grant from ITF Therapeutics. AMCP offers CPE for this podcast through December 31, 2026. For additional information and to claim credit, please visit:  ⁠The Power of Partnership: Bridging Patients and Payers in Duchenne Muscular Dystrophy Management⁠. Find all of our network podcasts on your favorite podcast platforms and be sure to subscribe and like us. Learn more at www.healthcarenowradio.com/listen

neuroscientist, former CMO, and author of Make Me Great, for an engaging conversation that redefines productivity from the inside out. Thomas shares his unconventional journey from artificial intelligence and neuroscience into marketing, leadership, and ethical persuasion, revealing how his early work in neuromarketing delivered results but ultimately felt incomplete without a human-centered approach. At the heart of the conversation is one powerful insight: when someone is making a decision, their brain is silently asking, "Make me great." Thomas explains how primal, subconscious forces drive our choices long before logic kicks in, and why people rationalize decisions only after they've already been made. He breaks down concepts like silent listening, subconscious frustration, and why talking about features, products, or credentials too early actually pushes people away. You'll also hear memorable real-world examples showing how simply paying attention, asking better questions, and listening without interruption can instantly change outcomes in business and in everyday life. The discussion expands into purpose, personal "why," and how building tribes around shared values accelerates productivity while reducing wasted effort. This episode is a powerful reminder that productivity isn't just about systems and structure. It's about empathy, intention, and making others feel seen, heard, and valued. What We Discuss   [00:00]  Introduction to Dr. Thomas Trautmann   [06:32]  Discovery of neuromarketing and business growth   [10:23]  The power of positioning and system 1 thinking   [14:19]  Silent listening and active engagement   [16:13]  Habits for unforgettable work and the 11-second rule   [17:06]  Understanding the primal brain and decision-making   [21:10]  The importance of "why" in productivity   [23:16]  Personal story: the power of revisiting your why   [24:40]  Client success story using "Make Me Great"   [26:18]  The gift of listening and neurochemistry   [29:07]  Team alignment, purpose, and the tribe concept   [31:43]  Actionable productivity tool: the "you" language   [32:58]  Where to learn more about Dr. Trautmann   [33:45]  Podcast closing and call for reviews    Notable Quotes   [09:14] "I noticed that neuromarketing was lacking humanity. Even though we are targeting the brain, we are lacking humanity." – Thomas Trautmann   [09:52] "When you want a decision from someone, that person's brain is shouting at you, 'Make me great.'" – Thomas Trautmann   [14:44] "Active listening is okay, but silent listening is silence. Listen. Write down. Ask questions to clarify. But get that thing up there in your head to shut up." – Thomas Trautmann   [17:11] "We make primal decisions that we rationalize afterwards." – Thomas Trautmann   [32:22] "If you look at my LinkedIn profile, it's all about you, you, you. Try to use the 'you' language. It's a super powerful tool." – Thomas Trautmann   [27:43] " When I smile, when I do the, you know, the nice smile with the little les here, which is called the Duchenne smile, by the way, I get a shoot of endorphin in my brain." – Thomas Trautmann   [32:17] "When you start something with someone, use the new language. Try to use 'you, you, you.' It's a super powerful tool. It's the first step to get them to say, 'He cares about me"– Thomas Trautmann   Resources   Dr. Thomas Trautmann Website: make-me-great.com LinkedIn: linkedin.com/in/thomastrautmann Book – Make Me Great   Productivity Smarts Podcast Website - productivitysmartspodcast.com   Gerald J. Leonard Website - geraldjleonard.com Turnberry Premiere website - turnberrypremiere.com Scheduler - vcita.com/v/geraldjleonard Kiva is a loan, not a donation, allowing you to cycle your money and create a personal impact worldwide. https://www.kiva.org/lender/topmindshelpingtopminds  

Alan Beggs, PhDDirector of the Manton Center for Orphan Disease ResearchSir Edwin and Lady Manton Professor of Pediatrics, Boston Children's HospitalHarvard Medical School, Boston, MA, USA Julie A. Parsons, MDHaberfield Endowed Chair in Pediatric Neuromuscular DisordersProfessor of Clinical Pediatrics and NeurologyUniversity of Colorado School of Medicine, Children's Hospital ColoradoAurora, CO, USADoctors Beggs and Parsons discuss the current status of gene therapies in rare neuromuscular disorders in this eight part podcast series. This is derived from the symposium that was presented at the MDA 2025 conference in Dallas, Texas, in March 2025 and is intended for healthcare professionals only. This podcast includes information about investigational compounds that do not yet have a regulatory approval or authorization for a specific indication. The safety and efficacy of the agents under investigation have not been established. In contents of this podcast, shall not be used in any manner to directly or indirectly promote or sell the product for unapproved uses. The ASPIRO clinical trial is on clinical hold since September 2021.In this part, Doctor Beggs will provide an explanation of AAV-mediated gene therapies.Alan Beggs, PhDAAV vectors, which I'm going to be talking about more today, or Adeno associated viral vectors are small viruses. Their DNA gets delivered into the cell and remains extrachromosomal. There are very rare occasional integrations, but the risk of oncogenesis as a result is significantly lower as a consequence of remaining extrachromosomal, though, we do have to think about what happens as the cells divide and potentially the durability of treatment is more limited.There have been a lot of movement and development over the years, starting back in the 1980s when the first AAV genomes were isolated and sequenced. This led to a development of methods to produce recombinant AAVs that would lack the genes necessary for viral replication, but contain a therapeutic gene you wish to deliver. Through this, the structure of AAVs have been developed. There have been isolation of a number of naturally occurring variants. You've heard of AAV8, AAV9, also RH 74, derived from a rhesus monkey for the RH. These have all been used in clinical trials. Then at the end I'll talk a little bit about directed evolution methods to actually engineer capsids with particular properties that are beneficial.Throughout this we've identified some of the issues that arise in this. It was initially thought that AAV vectors were non-immunogenic, but in fact there are immune responses not just to the viral payload to the therapeutic protein, but also to the viral vectors, and you're going to hear about that from Doctor Parsons. Over time, as we've come to understand these challenges, we've also been developing approaches to mitigate them. In terms of clinical trials and treatments, the very first studies were done back in the 1970s.By the early 2000, the very first clinical therapeutic was approved in China. It was actually an oncolytic virus carrying a p53 gene to treat head and neck cancers. By now there are over 40 approved treatments for various types of AAV delivered gene therapies. Of course, the ones we know a lot about are Zolgensma, which was approved in 2019, and Elevidys, which was approved last year. A number of challenges and then also a number of approaches to overcome those challenges. First of all, the preclinical data are not always sufficient to predict the response of a human patient.For example, in X-linked myotubular myopathy we had mouse and dog models that exhibited a myopathy but nothing else, and yet when we treated human patients, we discovered that patients with X-linked myotubular myopathy actually had a previously only poorly recognized hepatopathology that led to potential liver consequences following gene therapy. The animal models don't always predict the clinical outcome in humans.Also, we have small disease populations. These are rare diseases. It's important to understand the natural history of these diseases, understand the heterogeneity among the clinical population. It's very important to engage with families and with patients and communities, understand who might be at increased risk to treatment with one of these. This feeds into safety considerations. We need to think also about some of the immune responses. I think we're starting to learn, for example, with the gene therapies for Duchenne, and we know this from SMA that some patients get into trouble and others don't. We need to understand why that may be, and we don't know about the long term effects. This has been very recent.

Julie A. Parsons, MD Haberfield Endowed Chair in Pediatric Neuromuscular DisordersProfessor of Clinical Pediatrics and NeurologyUniversity of Colorado School of Medicine, Children's Hospital ColoradoAurora, CO, USAAs we talk about the gene transfer therapies and the modalities that we have to use, it's really interesting. Yesterday, with our keynote speaker, you could see this logarithmic growth of the use of gene transfer therapies for these disorders. If you look at the Venn diagram, you can see that really 27% almost of gene transfer therapies that are used are in musculoskeletal and neurology. For many of us as neurologists, we also take care of metabolic disorders.We really own right now this landscape, and of course, our two approved modalities are Onasemnogene and Delandistrogene. We're going to look at three different disorders, monogenic disorders, monogenic diseases, to typify what we look at in terms of some of the risks and benefits of these treatments. SMA, Duchenne, and X-linked myotubular myopathy are all rare disorders. They're all diseases that have a high unmet medical need and a significant disease burden.I think they're all good in terms of typifying where we are clinically with these disorders. The first question is, is it worth it? Are these effective treatments? We know from looking at the information about SMA that just looking early on, we know that if we treat kids early, that we do see a marked improvement in motor scores for kids that are treated early with Onasemnogene.In Duchenne, we have information that there is at least some improvement in the 4-5-year-olds in terms of motor skills treated with Delandistrogene. In terms of X-linked MTM, which was a very dramatic improvement, you could see that for boys who were basically traked, vented, and had no mobility, the bottom line, the blue line, is actually looking at ventilator dependence. Are they effective? Yeah, they're effective, but then we have to say, okay, what's the downside?The downside is that there's tremendous risk associated with treatment with these agents. If we really look at the sobering facts, we know that with SMA, there have been deaths, there have been fatalities related to thrombotic microangiopathy to patients who have liver failure, a couple of patients have died. With Onasemnogene, this is 4,000 plus doses that have so far been given. With Duchenne, unfortunately, many of us got the letter yesterday talking about an additional death in a patient treated with commercial Delandistrogene.We also know with some of the other agents, like fordadistrogene, patient died of heart failure, cardiac arrest, another patient who had acute respiratory syndrome with pulmonary edema. Again, we look at this and say this is significant. With X-linked MTM, as Alan said, there were some unanticipated deaths, four deaths from patients who ended up having cholestatic liver diseases that really wasn't anticipated prior to the patients being treated with the animal models and all that we had. Then many of you have heard about the patient with Rett syndrome who had a systemic hyperinflammatory syndrome. Again, these are rare disorders. They have a high disease burden, but the risk of treatment is significant.In the next part, Dr. Parsons discuss factors impacting safety and efficacy of AAV-mediated gene therapies.

Julie A. Parsons, MDHaberfield Endowed Chair in Pediatric Neuromuscular DisordersProfessor of Clinical Pediatrics and NeurologyUniversity of Colorado School of Medicine, Children's Hospital ColoradoAurora, CO, USAThe gene transfer trials for musculoskeletal disorders, if we look at musculoskeletal and neurologic disorders, we really do have the highest success rate in terms of treatment, but we also carry the highest incidence of treatment-emergent severe adverse events. And why is that true? Yesterday, when we were hearing about Donovan as well, we looked and said, When the first gene transfer therapies were started, he had a single muscle that was injected.When we look at Luxturna, we injected the retina. Now, what is happening with these disorders is that we're giving these huge, massive doses of viral vector to patients. There haven't been a lot of gene transfer therapies that have reached the market. But you saw yesterday, so many gene transfer therapies being worked on, but there are very few that have actually come to market. There are a couple of reasons for that.One is with the indications that we have, we know that the musculoskeletal disorders are most likely to achieve benefit, but there are the high risk of severe adverse events. Route of Administration, IV, for most of our disorders is the way we're going. We may end up having some Intrathecal therapies as well that are coming on board, but right now it's IV, and that means, a huge dose of this viral vector and antigenic risk that is being administered.In the vector design now, we actually have more specific vectors as well as promoters that are being utilized to really target specific tissues, so that we're able to focus in a little bit more on the tissues that we want to have affected. And then the dose has gone from these little tiny local injections to really systemic, much broader. And now our patients, are larger. So we're giving a viral genome per kilo dose that is just massive as we look at that.Then there really are challenges in terms of the translation of clinical trials to commercial treatment with these agents. And we don't always know, we're not always great when we do tests in clinical trials in small populations, about when that's broadened to the commercial availability and we hit larger heterogeneous populations.There are safety issues arising from these therapies, and I think that we have some experience now, certainly with the three diseases that I mentioned at the beginning, in terms of collecting some data and information to have a little bit more of an idea what to expect. Although to me, the recurring esteem is always, expect the unexpected. Because we still are learning about this. Hepatotoxicity. We know that transaminitis is something that we see in almost every gene transfer therapy that has been delivered, and we have to watch really, really closely and follow our patients closely for this. We also have to select patients that we don't think have risk for additional liver injury or underlying liver pathology, because as we found out in the XLMTM boys, we missed that. Thrombotic Microangiopathy. We look at this disorder. We've had deaths in SMA from TMA. We have Duchenne patients that have had TMA.This is scary because as many of us as clinicians who have treated patients, you know that we end up getting thrombocytopenia. So is that it this time, or are they going to be fine, or the platelet is going to go back to normal? This is another one that we have to watch really, really closely for. Cardiac Toxicity. We have had cardio myositis. We've had deaths from cardiac toxicity.Something really, really important for us to think about. In little kids, vomiting could be a sign of cardiac myositis. And for most of us who've treated patients with gene transfer therapy, what's one of the first issues that you get?You get nausea of vomiting, they don't feel good. So is that myocarditis or is it just a standard side effect that we're seeing with treatment? Importantly, as we discovered, there actually can be an immune response to the transgene. It's not just the viral vector capsid, it's actually the transgene as well. That was discovered in patients who were treated for Duchenne. So that's a really important thing in terms of looking now at what's our patient's selection and how do we pick the right patients.Next part, Dr. Parsons will discuss understanding and preparing risk factors associated with AAV gene therapies.

Most men would die for their family. How many live for them? ✊ When doctors told Jim Raffone to "go home and love his son" because Duchenne had no cure, he didn't listen. He sold his construction empire -- down to the last tool -- to fund a miracle. 12 years later, he's rewriting history through JAR of Hope.Witness the power of a father on a mission. Subscribe for more inspiration and insights.

The 2025 Medical Innovation Olympics featured one of the most memorable and personal interviews with Amber Salzman, CEO at Epicrispr Biotechnologies, an extraordinary leader with unparalleled sense of purpose, urgency, PhD in mathematics and illustrious track record of success as a pharmaceutical industry executive with over 30 years of experience that included growing revenue, shareholder value, and accelerating innovative treatments. She began her career leading R & D at GSK with a clinical pipeline responsibility for $1.25 billion, prior to serving as CEO at Cardiokine, CEO at Avalanche, co-founder of Annapurna, SAS, CEO of Adverum, Ohana Biosciences. She currently serves on the Osler Diagnostics (UK) and AviadoBio (UK) Boards. In addition to advocating for patients living with rare diseases, Dr. Salzman leads the Stop ALD Foundation, a non-profit medical research foundation focused on developing.In this interview Amber speaks about her personal and family's struggle with neurodegenerative rare diseases and the critical new discoveries in gene regulation to switch genes on and off rather than cut DNA which she has guided and accelerated with the support of an extraordinary team of Nobel Prize laureates and scientists at Epicrispr. 0:00 - Highlight 1 - Amber's Family's Personal Struggle with Rare Neurodegenerative Disease1:02 - Highlight 2 - Patient's Real-World Story from the 9/11 tragedy2:31 - Highlight 3 - Vision & Stamina Needed to Address Unpredictability of Human Biology 4:03 - Speaker Introduction7:19 - Keys to Transition from R & D to CEO/Commercial Leader10:22 - Approach to decision-making as a leader with urgency & purpose14:00 - Epigenetic Editing and How it is different from CRISPR16:36 - Challenges on the journey to Epicrispr's discovery18:14 - Second challenge - finding a gene modulator with which to fuse it 18:49 - Patients vary significantly in how they express their symptoms19:52 - Springbuck Analytics Partnership - Whole Body Imaging21:14 - Recent disappointments from Sarepta in Duchenne's muscular dystrophy25:48 - How Amber's personal family experiences with Genetic Diseases impacted her leadership journey29:47 - When could FSHD patients finally access this new treatment?31:27 - What other disease conditions is Epicrispr considering in its development program?33:27 - Amber's Lessons: Stay focused on patients, learn, and co-develop treatments together

À l'occasion de la journée internationale des personnes handicapées, nous parlons de leur santé mentale. Il s'agit non seulement de favoriser le bien-être des personnes en situation de handicap, mais également de mieux diagnostiquer et prendre en charge certaines comorbidités psychiques. Les affections mentales constituent en effet une comorbidité fréquente et parfois négligée, tant pour les personnes affectées dans leur mobilité par un handicap physique que pour les personnes concernées par un trouble moteur.  La santé mentale, grande cause nationale en France pour 2025, est reconduite pour l'année 2026. Les obstacles à la santé mentale sont multiples : qu'il s'agisse de l'accès aux soignants formés et spécialisés, les freins d'ordre financiers, géographiques, auxquels s'ajoutent les préjugés ou les fake-news, qui exposent les personnes à des retards de prise en charge ou à des traitements inappropriés. Les entraves et inégalités dans cet accès aux soins psychologiques et psychiatriques sont encore plus présentes pour certaines populations vulnérables. Aujourd'hui, à l'occasion de la journée internationale des personnes handicapées, Priorité Santé évoque les besoins et obstacles spécifiques qui concernent leur santé mentale, qu'ils ou elles soient porteur.es d'un handicap physique ou moteur.  Le double fardeau du handicap et de la santé mentale  Pour les personnes en situation de handicap, la détresse psychologique peut être générée par des émotions associées au handicap lui-même : angoisse d'être stigmatisé, isolé, exclu tout comme la difficulté de le dire. Des facteurs spécifiques peuvent également intervenir, comme la gestion de la douleur, la détresse affective et sexuelle, la frustration associée au manque d'autonomie.   À côté des problématiques liées directement ou handicap, peuvent se développer également des comorbidités d'ordre psychique et/ou psychiatrique ; avec un risque de sous-diagnostic, et donc d'absence de prise en charge, susceptible d'amplifier les symptômes et d'accroître le fardeau de la maladie et d'amplifier leur sévérité.  Valoriser la différence et les compétences   L'enjeu de la santé mentale dans le parcours de soins des personnes en situation de handicap doit donc être valorisé et considéré en fonction des spécificités des parcours de chacune et de chacun, des émotions individuelles, mais aussi des compétences propres aux personnes en situation de handicap. Mieux comprendre, mieux prendre en charge, lutter contre la stigmatisation, pour rendre le soin réellement accessible à tous les publics.  Avec : Matteo Bussoletti, psychologue, psychothérapeute, exerce au sein d'un IEM (Institut d'Éducation Motrice) dans la région du Havre, accueillant des enfants et des adolescents avec une déficience motrice et des troubles associés. Il est l'auteur de plusieurs articles sur des problématiques émotionnelles, scolaires et développementales de l'enfant et de l'adolescent. Ses travaux portent également sur les pratiques d'accompagnement psychologique, notamment l'hypnose, qu'il a intégrée à la prise en charge des jeunes en situation de handicap Hortense Aka Dago-Akribi, psychologue clinicienne et professeure titulaire à l'Université Félix Houphouët Boigny de Cocody à Abidjan en Côte d'Ivoire.   Un reportage de Charlie Dupiot. ► En fin d'émission, nous parlons du Téléthon qui se tient les 5 et 6 décembre 2025 en France. À quelques jours de ce rendez-vous dédié à la recherche contre les maladies génétiques, coup de projecteur sur le projet européen DREAMS, un projet pour améliorer la prise en charge de cinq maladies rares : la myopathie de Duchenne, une myopathie centronucléaire, la myopathie d'Emery-Dreifuss, la maladie de Pompe et la maladie de Danon. Interview de Xavier Nissan, directeur de recherche à I-Stem et coordonnateur du projet Dreams.   Programmation musicale : ► Nathi feat. Kayla Carrington – A vida é minha ► Natanjo – Kimia.

À l'occasion de la journée internationale des personnes handicapées, nous parlons de leur santé mentale. Il s'agit non seulement de favoriser le bien-être des personnes en situation de handicap, mais également de mieux diagnostiquer et prendre en charge certaines comorbidités psychiques. Les affections mentales constituent en effet une comorbidité fréquente et parfois négligée, tant pour les personnes affectées dans leur mobilité par un handicap physique que pour les personnes concernées par un trouble moteur.  La santé mentale, grande cause nationale en France pour 2025, est reconduite pour l'année 2026. Les obstacles à la santé mentale sont multiples : qu'il s'agisse de l'accès aux soignants formés et spécialisés, les freins d'ordre financiers, géographiques, auxquels s'ajoutent les préjugés ou les fake-news, qui exposent les personnes à des retards de prise en charge ou à des traitements inappropriés. Les entraves et inégalités dans cet accès aux soins psychologiques et psychiatriques sont encore plus présentes pour certaines populations vulnérables. Aujourd'hui, à l'occasion de la journée internationale des personnes handicapées, Priorité Santé évoque les besoins et obstacles spécifiques qui concernent leur santé mentale, qu'ils ou elles soient porteur.es d'un handicap physique ou moteur.  Le double fardeau du handicap et de la santé mentale  Pour les personnes en situation de handicap, la détresse psychologique peut être générée par des émotions associées au handicap lui-même : angoisse d'être stigmatisé, isolé, exclu tout comme la difficulté de le dire. Des facteurs spécifiques peuvent également intervenir, comme la gestion de la douleur, la détresse affective et sexuelle, la frustration associée au manque d'autonomie.   À côté des problématiques liées directement ou handicap, peuvent se développer également des comorbidités d'ordre psychique et/ou psychiatrique ; avec un risque de sous-diagnostic, et donc d'absence de prise en charge, susceptible d'amplifier les symptômes et d'accroître le fardeau de la maladie et d'amplifier leur sévérité.  Valoriser la différence et les compétences   L'enjeu de la santé mentale dans le parcours de soins des personnes en situation de handicap doit donc être valorisé et considéré en fonction des spécificités des parcours de chacune et de chacun, des émotions individuelles, mais aussi des compétences propres aux personnes en situation de handicap. Mieux comprendre, mieux prendre en charge, lutter contre la stigmatisation, pour rendre le soin réellement accessible à tous les publics.  Avec : Matteo Bussoletti, psychologue, psychothérapeute, exerce au sein d'un IEM (Institut d'Éducation Motrice) dans la région du Havre, accueillant des enfants et des adolescents avec une déficience motrice et des troubles associés. Il est l'auteur de plusieurs articles sur des problématiques émotionnelles, scolaires et développementales de l'enfant et de l'adolescent. Ses travaux portent également sur les pratiques d'accompagnement psychologique, notamment l'hypnose, qu'il a intégrée à la prise en charge des jeunes en situation de handicap Hortense Aka Dago-Akribi, psychologue clinicienne et professeure titulaire à l'Université Félix Houphouët Boigny de Cocody à Abidjan en Côte d'Ivoire.   Un reportage de Charlie Dupiot. ► En fin d'émission, nous parlons du Téléthon qui se tient les 5 et 6 décembre 2025 en France. À quelques jours de ce rendez-vous dédié à la recherche contre les maladies génétiques, coup de projecteur sur le projet européen DREAMS, un projet pour améliorer la prise en charge de cinq maladies rares : la myopathie de Duchenne, une myopathie centronucléaire, la myopathie d'Emery-Dreifuss, la maladie de Pompe et la maladie de Danon. Interview de Xavier Nissan, directeur de recherche à I-Stem et coordonnateur du projet Dreams.   Programmation musicale : ► Nathi feat. Kayla Carrington – A vida é minha ► Natanjo – Kimia.

Santiago Zapata es un joven inspirador al que su condición física: distrofia muscular de Duchenne, jamás le ha impedido lograr su sueño. Vivir la vida como una gran bendición.  Hoy nos presenta su segundo libro, con el que busca recaudar fondos para construir la primera clínica en Colombia que trate a jóvenes con esta condición. Una historia de vida conmovedora e inspiradora. ¿Cómo construir amistades sinceras, auténticas y honestas? Alicia González, psicóloga española, nos cuenta cómo lograr tener amigos mejores, a partir de su libro, en el que comparte herramientas prácticas y sencillas para este fin. 

Dystrophinopathies are heritable muscle disorders caused by pathogenic variants in the DMD gene, leading to progressive muscle breakdown, proximal weakness, cardiomyopathy, and respiratory failure. Diagnosis and management are evolving areas of neuromuscular neurology. In this episode, Kait Nevel, MD, speaks with Divya Jayaraman, MD, PhD, an author of the article "Dystrophinopathies" in the Continuum® October 2025 Muscle and Neuromuscular Junction Disorders issue. Dr. Nevel is a Continuum® Audio interviewer and a neurologist and neuro-oncologist at Indiana University School of Medicine in Indianapolis, Indiana. Dr. Jayaraman is an assistant professor of neurology and pediatrics in the division of child neurology at the Columbia University Irving Medical Center in New York, New York. Additional Resources Read the article: Dystrophinopathies Subscribe to Continuum®: shop.lww.com/Continuum Earn CME (available only to AAN members): continpub.com/AudioCME Continuum® Aloud (verbatim audio-book style recordings of articles available only to Continuum® subscribers): continpub.com/Aloud More about the American Academy of Neurology: aan.com Social Media facebook.com/continuumcme @ContinuumAAN Host: @IUneurodocmom Full episode transcript available here Dr Jones: This is Dr Lyell Jones, Editor-in-Chief of Continuum. Thank you for listening to Continuum Audio. Be sure to visit the links in the episode notes for information about earning CME subscribing to the journal, and exclusive access to interviews not featured on the podcast. Dr Nevel: Hello, this is Dr Kate Nevel. Today I'm interviewing Dr Divya Jayaraman about her article on dystrophinopathies, which she wrote with Dr Partha Ghosh. This article appears in the October 2025 Continuum issue on muscle and neuromuscular junction disorders. Divya, welcome to the podcast, and please introduce yourself to the audience. Dr Jayaraman: Thank you so much, Dr Nevel. My name is Divya, and I am an assistant professor of Neurology and Pediatrics at Columbia University Irving Medical Center, and also an attending physician in the Pediatric Neuromuscular program there. In that capacity, I see patients with pediatric neuromuscular disorders and also some general pediatric neurology patients and also do research, primarily clinical research and clinical trials on pediatric neuromuscular disorders. Dr Nevel: Wonderful. Thank you for sharing that background with us. To set us on the same page for our discussion, before we get into some more details of the article, perhaps, could you start with some definitions? What comprises the dystrophinopathies? What are some of the core features? Dr Jayaraman: So, the dystrophinopathies, I like that term because it is a smaller subset from the muscular dystrophies. The dystrophinopathies are a spectrum of clinical phenotypes that are all associated with mutations in the DMD gene on chromosome X. So, that includes DMD---or, Duchenne muscular dystrophy---, Becker muscular dystrophy, intermediate muscular dystrophy (which falls in between the two), dilated cardiomyopathy, asymptomatic hyperCKemia, and manifesting female carriers. In terms of the core features of these conditions, so, there's some variability, weakness being prominent in Duchenne and also Becker. The asymptomatic hyperCKemia, on the other hand, may have minimal symptoms and might be found incidentally by just having a high CK on their labs. They all will have some degree of elevated CK. The dilated cardiomyopathy patients, and also the Becker patients to a lesser degree, will have cardiac involvement out of proportion to skeletal muscle involvement, and then the manifesting carriers likewise can have elevated CK and prominent cardiac involvement as well as some milder weakness. Dr Nevel: Now that we have some definitions, for the practicing neurologists out there, what do you think is the most important takeaway from your article about the dystrophinopathies? Dr Jayaraman: I like this question because it suggests that there's something that, really, any neurologist could do to help us pick up these patients sooner. And the big takeaway I want everyone to get from this is to check the CK, or creatine kinase, level. It's a simple, cheap, easy test that anyone can order, and it really helps us a lot in terms of setting the patient on the diagnostic odyssey. And in terms of whom you should be thinking about checking a CK in, obviously patients who present with some of the classic clinical features of Duchenne muscular dystrophy. This would include young boys who have toe walking, as they're presenting, sign; or motor delayed, delayed walking. They may have calf hypertrophy, which is what we say nowadays. You might have seen calf pseudohypertrophy in your neurology textbooks, but we just say calf hypertrophy now. Or patients can often have a Gowers sign or Gowers maneuver, which is named after a person called Gowers who described this phenomenon where the child will basically turn over and use their hands on the floor to stand up, usually with a wide-based gait, and then they'll sort of march their hands up their legs. That's the sort of classic Gowers maneuver. There are modified versions of that as well. So, if anyone presents with this classic presentation, for sure the best first step is to check a CK. But I would also think about checking a CK for some atypical cases. For example, any boy with any kind of motor or speech delay for whom you might not necessarily be thinking about a muscle disorder, it's always good practice to check a CK. Even a boy with autism for whom you may not get a good clinical exam. This patient might present to a general pediatric neurology clinic. I always check a CK in those patients, and you'll pick up a lot of cases that way. For the adult folks in particular, the adult neurologist, a female patient could show up in your clinic with asymptomatic hyperCKemia. And I think it's an important differential to think about for them because this could have implications not just for their own cardiac risks, but also for their family planning. Dr Nevel: So, tell us a little bit more about the timing of diagnosis. Biggest takeaway: check a CK if this is anywhere on your radar, even if somewhat of an atypical case. Why is it so important to get kiddos started on that diagnostic odyssey, as you called it, early? Dr Jayaraman: This is especially important for kids because if they especially get a Duchenne muscular dystrophy diagnosis, you might be making them eligible for treatments that we've had for some time, and also treatments that were not available earlier that hinge on making that diagnosis. So, for example, people may be skeptical about steroids, but there's population data to suggest that initiation and implementation of steroids could delay the onset of loss of ambulation as much as three years. So, you don't want to deprive patients of the chance to get that. And then all the newer emerging therapies---which we'll be talking about later, I'm sure---require a Duchenne muscular dystrophy diagnosis. So, that's why it's so important to check a CK, have this on your radar, and then get them to a good specialist. Dr Nevel: I know that you alluded already, or shared a few of the kind of exam paroles or findings among patients with dystrophinopathy. But could you share with us a little bit more how you approach these patients in the clinic who are presenting with muscle weakness, perhaps? And how do you approach this or think about this in terms of ways to potentially differentiate between a dystrophinopathy versus another cause of motor weakness or delay? Dr Jayaraman: It's helpful to think through the neuraxis and what kinds of disorders can present along that neuraxis. A major differential that I'm always thinking about when I'm seeing a child with proximal weakness is spinal muscular atrophy, which is a genetic anterior horn cell disorder that can also present in this age group. And some of the key differences there would be things like reflexes. So, you should have dropped reflexes in spinal muscular atrophy. In DMD, surprisingly, they might have preserved Achilles reflexes even if their patellar reflexes are lost. It may only be much later that they go on to lose their Achilles reflex. So, if you can get an Achilles reflex, that's quite reassuring, and if you cannot, then you need to be thinking about spinal muscular atrophy. They can both have low muscle tone and can present quite similarly, including with proximal weakness, and can even have neck flexion weakness. So, this is an important distinction to make. The reason for that is, obviously there are treatments for both conditions, but for spinal muscular atrophy, timing is very, very important. Time is motor neurons, so the sooner you make that diagnosis the better. Other considerations would be the congenital muscular dystrophies. So, for those that they tend to present a lot younger, like in infancy or very early on, and they can have much, much higher CKS in that age range than a comparable Duchenne or Becker muscular dystrophy patient. They can also have other involvement of the central nervous system that you wouldn't see in the dystrophinopathies, for example. My mnemonic for the congenital muscular dystrophies is muscle-eye-brain disease, which is one of the subtypes. So, you think about muscle involvement, eye involvement, and brain involvement. So, they need an ophthalmology valve. They can have brain malformations, which you typically don't see in the dystrophinopathies. I think those are some of the major considerations that I have. Obviously, it's always good to think about the rest of the neuraxis as well. Like, could this be a central nervous system process? Do they have upper motor neuron signs? But that's just using all of your exam tools as a neurologist. Dr Nevel: Yeah, absolutely. So, let's say you have a patient in clinic and you suspect they may have a dystrophinopathy. What is your next diagnostic step after your exam? Maybe you have an elevated CK and you've met with the patient. What comes next? Dr Jayaraman: Great question. So, after the CK, my next step is to go to genetics. And this is a bit of a change in practice over time. In the past we would go from the CK to the muscle biopsy before genetic testing was standard. And I think now, especially in kids, we want to try and spare them invasive procedures where possible. So, genetic testing would be the next step. There are a few no-charge, sponsored testing programs for the dystrophinopathies and also for some of the differential diagnosis that I mentioned. And I think we'll be including links to websites for all of these in the final version of the published article. So, those are a good starting point for a genetic workup. It's really important to know that, you know, deletions and duplications are a very common type of mutation in the DMD gene. And so, if you just do a very broad testing, like whole exome, you might miss some of those duplications and deletions. And it's important to include both checking for duplications and deletions, and also making sure that the DMD gene is sequenced. So always look at whatever genetic test you're ordering and making sure that it's actually going to do what you want it to do. After genetics, I think that the sort of natural question is, what if things are not clear after the genetics for some reason? We still use biopsy in this day and age, but we save it for those cases where it's not entirely clear or maybe the phenotype is a little bit discordant from the genotype. So, for mutations that disrupt the reading frame, those tend to cause Duchenne muscular dystrophy, whereas mutations that preserve the reading frame tend to cause Becker muscular dystrophy. There are some important exceptions to this, which is where muscle biopsy can be especially helpful in sorting it out. So, for example, there are some early mutations early in the DMD gene where, basically, they find an alternate start codon or an initiation codon to continue with transcription and translation. So, you end up forming a largely functional, somewhat truncated protein that gives you more of a milder Becker phenotype. On the other hand, you can have some non-frameshift or inframe mutations that preserve the reading frame, but because they disrupt a very key domain in the protein that's really crucial for its function, you can actually end up with a much more severe Duchennelike phenotype. So, for these sorts of cases, you might know a priori you're dealing with them, but might just be a child who is who you think has DMD has a mutation that's showed up on testing. There isn't enough in the literature to point you one way or another, but they look maybe a little milder than you would expect. That would be a good kid to do a biopsy in because there are treatment decisions that hinge on this. There are treatments that are only for Duchenne that someone with a milder phenotype would not be eligible for. Dr Nevel: So, that kind of stepwise approach, but maybe not all kids need a muscle biopsy is what I'm hearing from you. If it's a mutation that's been well-described in the literature to be fitting with Duchenne, for example. Dr Jayaraman: Absolutely. Dr Nevel: So, after you confirm the diagnosis through genetic testing---and let's say, you know, whether or not you do a muscle biopsy or not, after you know the diagnosis is a dystrophinopathy---how do you counsel the families and your patients? What are the most important points to relay to families, especially in that initial phase where the diagnosis is being made? Dr Jayaraman: This is a lot of what we do in pediatric neurology in general, right? So, I actually picked up this approach from the pediatric hematology oncology specialists at Boston Children's. They had this concept of a day-zero conversation, which is the day that you disclose the life-changing diagnosis or potentially, at some point, terminal diagnosis to a family. And some of the key components of that are a not beating around the bush, telling them what the diagnosis is, and then letting them have whatever emotional response they're going to have in the moment. And you may not get much further than that, but honestly, you want them to take away, this is what my child has. I did not do anything to cause this, nor could I have done anything to prevent this. Because often for these genetic conditions, there's a lot of guilt, a lot of parental guilt. So, you want to try and assuage that as much as possible. And then to know that they're not going to be alone on this journey; that, you know, they don't have to have it all figured out right then, but we can always come back and answer any questions they have. There's going to be a whole team of specialists. We're going to help the family and the kid manage this condition. Those are sort of my big takeaways that I want them to get. Dr Nevel: Right. And that segues into my next question, which is, who is part of that team? I know that these teams that help take care of people with dystrophinopathies and other muscle disorders can be very large teams that span multiple specialists. Can you talk a little bit more about that for this group of patients? Dr Jayaraman: Of course. So, the neuromuscular neurologist, really, our role is in coordinating the diagnosis, the initiation of any disease-specific treatments, and coordinating care with a whole group of specialists. So, we're sort of at the center of that, but everyone else is equally important. So, the other specialists include physical therapists; occupational therapists; rehab doctors or physiatrists; orthotists who help with all of the many braces and other devices that they might need, wheelchairs; pulmonology, of course, for managing the respiratory manifestations of this. It becomes increasingly important over time, and they are involved early on to help monitor for impending respiratory problems. Cardiac manifestations, this is huge and something that you should be thinking about even for your female carriers, the mother of the patient you're seeing in the clinic, or your patient who comes to adult clinic with asymptomatic hyperCKemia. if you end up making a diagnosis of DMD carrier for those patients, or if you make a Becker diagnosis, the cardiac surveillance is even more important because the cardiac involvement can be out of proportion to the skeletal muscle weakness. And of course, extremely important for the Duchenne patients as well. Endocrinologists are hugely important because in the course of treating patients with steroids, we end up giving them a lot of iatrogenic endocrinologic complications. Like they might have delayed puberty, they might have loss of growth, of height; and of course metabolic syndrome. So, endocrinology is hugely important. They're also important in managing things like fracture prevention, osteoporosis, prescribing bisphosphonates if necessary. Nutrition and GI are also important, not just later on when they might need assistance to take in nutrition, whether that's through tube feeds, but also earlier on when we're trying to manage the weight. Orthopedics, of course, for the various orthopedic complications that patients develop. And then finally, a word must be said for social work and behavioral and mental health specialists, because a lot of this patient population has a lot of mental health challenges as well. Dr Nevel: After you give the diagnosis, you've counseled the patient and families and you've had those kind of initial phase discussions, the day-zero discussion, when you start getting into discussions or thoughts about management, disease-specific medication. But what are the main categories of the treatment options, and maybe how do you kind of approach deciding between treatment options for your patients? Dr Jayaraman: So, there are two broad categories that I like to think about. So, one is the oral corticosteroids and oral histone deacetylase, or HDAC inhibitors, which share the common characteristic that they are non-mutation specific. And within corticosteroids, patients now have a choice between just Prednisone or Prednisolone, or Deflazacort or Vermilion. The oral HDAC inhibitors are newly FDA-approved as a nonsteroidal therapy in addition to corticosteroids in DMD patients above six years of age. I would say we're in the early phase of adoption of this in clinical practice. And then the other big category of treatment options would be the genetic therapies as a broad bucket, and this would include gene therapy or gene replacement therapy, of which the most famous is the microdystrophin gene therapy that was FDA-approved first on an accelerated approval basis for ages four to eight, and then a full approval in that age group as well as an accelerated approval for all comers, essentially, with DMD. This is obviously controversial. Different centers approach this a bit differently. I think our practice at our site has been to focus on the ambulatory population, just thinking about risk versus benefit, because the risks are not insignificant. So really this is something that should be done by experienced sites that have the bandwidth and the wherewithal to counsel patients through all of this and to manage complications as they arise with regular monitoring. And then another class that falls within this broader category would be the Exon-skipping therapies. So as the name suggests, they are oligonucleotides that cause an Exon to be skipped. The idea is, if there is a mutation in a particular Exon that causes a frame shift, and there's an adjacent Exon that you can force skipping of, then the resulting protein, when you splice the two ends together, will actually allow restoration of the reading frame. I think the picture I want to paint is that there's a wide range of options that we present to families, not all of which everyone will be eligible for. And they all have different risk profiles. And I really think the choice of a particular therapy has to be a risk-benefit decision and a shared decision-making process between the physician and the family. Dr Nevel: What is going on in research in this area? And what do you think will be the next big breakthrough? I know before we started the recording you had mentioned that there's a lot of things going on that are exciting. And so, I'm looking forward to hearing more. Dr Jayaraman: Of course. So, I'll be as quick as I can with this. But I mentioned that next-generation Exon skipping therapies, I think the hope is that they will be better at delivering the Exon skipping to the target tissue and cells and that they might be more efficacious. I'm also excited about next-generation gene therapies that might target muscle more specifically and hopefully reduce the off-target effects, or combination use of gene therapies with other immunosuppressive regimens to improve the safety profile and maybe someday allow redosing, which we cannot do currently. Or potentially targeting the satellite cells, which are the muscle stem cells, again, to improve the long term durability of these genetic therapies. Dr Nevel: That's great, thank you for sharing. Thank you so much for talking to me today about your article. I really enjoyed learning more about the dystrophinopathies. Today I've been interviewing Dr Divya Jayaraman about her article on the dystrophinopathies, which she wrote with Dr Partha Ghosh. This article appears in the October 2025 Continuum issue on muscle and neuromuscular junction disorders. Please be sure to check out the Continuum Audio episodes from this and other issues. Also, please read the Continuum articles for more details than what we were able to get to today during our discussion. Thank you, as always, so much to the listeners for joining us today, and thank you, Divya, for sharing all of your knowledge with us today. Dr Jayaraman: Thank you so much for having me on the podcast. Dr Monteith: This is Dr Teshamae Monteith, Associate Editor of Continuum Audio. If you've enjoyed this episode, you'll love the journal, which is full of in-depth and clinically relevant information important for neurology practitioners. Use the link in the episode notes to learn more and subscribe. AAN members, you can get CME for listening to this interview by completing the evaluation at continpub.com/audioCME. Thank you for listening to Continuum Audio.

Muscular dystrophy (MD) is a group of genetic diseases that affect about 16 to 25 per 100,000 people in the US, with the most common childhood form being Duchenne muscular dystrophy (DMD) and the most common adult form being myotonic dystrophy. The prevalence of DMD is estimated at around 1 in 3,500 live male births. Prenatal carrier screening for this is part of the ACMG Tier 3 expanded carrier panel. This is different from spinal muscular atrophy (SMA). As we recently had a patient who was a MD carrier, with affected male children, who we cared for, we decided to do a quick review of muscular dystrophy: its prevalence, genetics, and evaluation of asymptomatic maternal carriers.1. https://www.mda.org/disease/duchenne-muscular-dystrophy/causes-inheritance2.https://www.nichd.nih.gov/health/topics/musculardys/conditioninfo/causes3. https://www.nhs.uk/conditions/muscular-dystrophy/4. ACMG: https://thednaexchange.com/2022/03/30/acmg-carrier-screening-guideline-the-hypothetical-tier-3-panel/#:~:text=The%20goal%20of%20this%20ACMG,1%20in%2040%2C000%20or%20higher.

Meet Gabe, a 17-year-old ambassador living with Duchenne muscular dystrophy, laying out what hope looks like when it's tied to real science and real community. We sit down for a rapid-fire, honest conversation about the HOPE-3 clinical trial, the daily realities of muscle loss and heart health, and the surprising places strength shows up—like a firefighter's boot filled with donations that fund research and send kids to camp.Gabe doesn't just want to share a story; he wants to build a platform. His dream is to start a podcast focused on firefighters, service, and the people who show up when it matters. Along the way, we trade our own experiences with losing the ability to walk and the mental toughness it demands, keeping the conversation grounded in dignity, humor, and momentum.The episode brings together advocacy, clinical research, and the power of community action, with shoutouts to Fill the Boot and the many firefighters who make a tangible difference. Expect practical insights on navigating trials like HOPE-3, a candid look at perseverance, and a reminder that joy—yes, even in sneaker talk—belongs in every fight. If stories like Gabe's move you, help us amplify them: subscribe, share this with a friend who needs a boost, and leave a review to support more conversations that turn courage into action.

Which combination of impairments is MOST likely to be present in a 7-year-old patient with Duchenne muscular dystrophy? Find it all out in the podcast! Be prepared for the NPTE so that you can pass with flying colors! Check out www.ptfinalexam.com/podcast for more information and to stay up-to-date with our latest courses and projects. #Npte #PT #ptboards #crushtheNPTE #study #studygram #spt #ptstudent #ptlife #sptprobs #physicaltherapystudent #physicaltherapy #physio #physiotherapist #ptlife #ptstudentstudy