Podcasts about attr

oin i3 Health for a special live webinar, Increasing Detection and Improving Outcomes in Hereditary Transthyretin Amyloid Cardiomyopathy, being held on Wednesday, July 30 at 5:00 pm ET. In this exclusive event, Dr. Mathew Maurer, the Arnold and Arlene Goldstein Professor of Cardiology at Columbia University Irving Medical Center, will share his expertise and latest insights in the treatment of hereditary ATTR-CM. In this interview, Dr. Maurer shares a preview of the topics he is excited to highlight during the webinar, including signs and symptoms to aid in early diagnosis, advances in genetic testing and new diagnostic modalities, novel therapies that are improving outcomes, and the role of interdisciplinary collaboration. Don't miss this opportunity to learn from one of the leading voices in hereditary ATTR-CM care. Register at the link below or scan the QR code in the video to secure your spot. We look forward to seeing you! Register Here: bit.ly/3UgV7nF

Drs. Rick Ferraro and Sneha Nandy discuss ‘Diagnosis of ATTR Cardiac Amyloidosis' with Dr. Venkatesh Murthy.  In this episode, we explore the diagnosis of ATTR cardiac amyloidosis, a condition once considered rare but now increasingly recognized due to advances in imaging and the availability of effective therapies. Dr. Venkatesh Murthy, a leader in multimodality imaging, discusses key clinical and laboratory features that should raise suspicion for the disease. We also examine the role of nuclear imaging and genetic testing in confirming the diagnosis, as well as the importance of early detection. Tune in for expert insights on navigating this challenging diagnosis and look out for our next episode on treatment approaches for cardiac amyloidosis! Audio editing for this episode was performed by CardioNerds Intern, Julia Marques Fernandes. Enjoy this Circulation Paths to Discovery article to learn more about the CardioNerds mission and journey.  US Cardiology Review is now the official journal of CardioNerds! Submit your manuscripts here.  CardioNerds Cardiac Amyloid PageCardioNerds Episode Page Pearls: - Diagnosis of Transthyretin amyloid cardiomyopathy 1. Recognizing the Red Flags – ATTR cardiac amyloidosis often presents with subtle but telling signs, such as bilateral carpal tunnel syndrome, low-voltage ECG, and a history of lumbar spinal stenosis or biceps tendon rupture. If you see these features in a patient with heart failure symptoms, think amyloidosis!    2. “Vanilla Ice Cream with a Cherry on Top” – On strain echocardiography, apical sparing is a classic pattern for cardiac amyloidosis. While helpful, it's not foolproof—multimodal imaging and clinical suspicion are key!   3. Nuclear Imaging is a Game-Changer – When suspicion for cardiac amyloidosis is high à a positive PYP scan with SPECT imaging (grade 2 or 3 myocardial uptake) in the absence of monoclonal protein (ruled out by SPEP, UPEP, and free light chains) is diagnostic for ATTR amyloidosis—no biopsy needed!   4. Wild-Type vs. Hereditary? Know the Clues – Older patients (70+) are more likely to have wild-type ATTR, while younger patients (40s-60s), especially those with neuropathy and a family history of heart failure, should raise suspicion for hereditary ATTR. Genetic testing is crucial for distinguishing between the two. Note that some ATTR variants may predispose to a false negative PYP scan!  5. Missing Amyloidosis = Missed Opportunity – With multiple disease-modifying therapies now available, early diagnosis is critical. If you suspect cardiac amyloidosis, don't delay the workup—early treatment improves outcomes!   Notes - Diagnosis of Transthyretin amyloid cardiomyopathy What clinical features should raise suspicion for ATTR cardiac amyloidosis?   ATTR cardiac amyloidosis is underdiagnosed because symptoms overlap with other forms of heart failure.   Red flags include bilateral carpal tunnel syndrome (often years before cardiac symptoms), low-voltage ECG despite increased LV wall thickness, heart failure with preserved ejection fraction (HFpEF) with a restrictive pattern, and history of lumbar spinal stenosis, biceps tendon rupture, and/or peripheral neuropathy, including possible autonomic dysfunction (e.g., orthostatic hypotension).  Remember: If an older patient presents with heart failure and unexplained symptoms like neuropathy or musculoskeletal issues, think amyloidosis!   What is the differential diagnosis for a thick left ventricle (LVH) and how does ATTR amyloidosis fit into it?    Hypertension: Most common cause of LVH, typically with a history of uncontrolled high blood pressure.   Aortic stenosis: May present with concentric LVH.   Hypertrophic cardiomyopathy (HCM): Genetic disorder typically presenting with asymmetric LVH, especially in younger patients.   Infiltrative cardiomyopathy: Often due to amyloidosis, sarcoidosis,

On this episode of Longevity by Design, Dr. Gil Blander sits down with Dr. Karl Pfleger, aging biotechnology investor and creator of AgingBiotech.info, to dissect the rapidly evolving field of aging therapeutics. Karl breaks down the sector into two main categories: interventions that slow aging rates versus rejuvenation strategies that repair accumulated damage.Karl highlights the most promising areas in his investment portfolio, including senolytics for clearing senescent cells and epigenetic reprogramming technologies. He explains why current aging clocks aren't ready for clinical use and discusses the limitations of popular interventions like GLP-1 drugs and fasting protocols. The conversation reveals that 14 Phase 3 clinical trials are currently testing core aging therapeutics.The discussion covers recent FDA approvals for ATTR treatments and stem cell therapies, signaling the field's maturation. Karl emphasizes that meaningful life extension requires a "divide and conquer" strategy, targeting multiple aging mechanisms simultaneously rather than relying on single interventions. Despite exciting therapeutic developments, he maintains that optimizing diet, exercise, and sleep remains the most impactful strategy for extending healthspan today.Guest-at-a-Glance

Witam Państwa, nazywam się Jarosław Drożdż, pracuję w Centralnym Szpitalu Klinicznym Uniwersytetu Medycznego w Łodzi, skąd nagrywam podcast Kardio Know-How. W tym odcinku przedstawiam nowości opublikowane podczas kongresu HFA ESC 2025.  Podczas czerwcowego Kongresu HFA ESC zaprezentowano przełomowe dane nt. terapii genowej nexiguranu ziklumeranu opartej na CRISPR-Cas9, która w badaniach klinicznych fazy 1 wykazała trwałą, >90% redukcję TTR w surowicy u pacjentów z amyloidozą ATTR, zarówno dziedziczną (ATTRv), jak i dziką (ATTRwt). Terapia ta opiera się na pojedynczej infuzji lipidowych nanocząsteczek z tropizmem wątrobowym i nadal jest w fazie badań klinicznych. Przedstawiono także wyniki badania FUTURE-HF, oceniającego wszczepialny czujnik żyły głównej dolnej do zdalnego monitorowania pacjentów z niewydolnością serca. Urządzenie wykazało bezpieczeństwo, wysoką skuteczność techniczną i potencjalną poprawę parametrów klinicznych, w tym NT-proBNP i klasy NYHA. To przykład rosnącej roli nowoczesnych technologii w leczeniu niewydolności serca i potrzeby odejścia od nieskutecznego modelu 1 lekarz – 1 pacjent. Szczegółowy TRANSKRYPT do odcinka.Podcast jest przeznaczony wyłącznie dla osób z profesjonalnym wykształceniem medycznym.

This activity was supported by an educational grant from Alnylam Pharmaceuticals. Please go to ⁠academiccme.com and complete the evaluation to receive your CE/CME Credit. Credit is available through June 25, 2026.

Witam Państwa, nazywam się Jarosław Drożdż, pracuję w Centralnym Szpitalu Klinicznym Uniwersytetu Medycznego w Łodzi, skąd nagrywam podcast Kardio Know-How. W tym odcinku przedstawiam nową możliwość terapeutyczną w amyloidozie. Amyloidoza transtyretynowa (ATTR) to rzadka choroba spichrzeniowa, w której nieprawidłowe białko TTR odkłada się w sercu, prowadząc do kardiomiopatii przerostowej i niewydolności serca typu HFpEF. Wyróżniamy dwie postaci ATTR: dziedziczną (ATTRv) z mutacjami w genie TTR oraz postać dziką (ATTRwt), występującą głównie u starszych mężczyzn. Przełomem terapeutycznym stał się tafamidis – lek stabilizujący tetramer TTR, a ostatnio także vutrisiran – siRNA redukujące syntezę TTR w wątrobie, który w badaniu HELIOS-B wykazał 36% redukcji śmiertelności. Rozpoznanie ATTR opiera się na scyntygrafii, badaniach genetycznych i obrazowych (ECHO, CMR). Wczesna diagnoza i wdrożenie leczenia mogą znacząco poprawić rokowanie pacjentów, dlatego interdyscyplinarna współpraca i znajomość nowych terapii są kluczowe. Szczegółowy TRANSKRYPT do odcinka.Podcast jest przeznaczony wyłącznie dla osób z profesjonalnym wykształceniem medycznym.

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Marianna Fontana, MD, PhD / Julian Gillmore, MD, PhD, FRCP, FRCPath - Identifying Outcomes That Matter in ATTR-CM: Critical Considerations in the Interpretation of Contemporary Clinical Trials

Marianna Fontana, MD, PhD / Julian Gillmore, MD, PhD, FRCP, FRCPath - Identifying Outcomes That Matter in ATTR-CM: Critical Considerations in the Interpretation of Contemporary Clinical Trials

Marianna Fontana, MD, PhD / Julian Gillmore, MD, PhD, FRCP, FRCPath - Identifying Outcomes That Matter in ATTR-CM: Critical Considerations in the Interpretation of Contemporary Clinical Trials

Marianna Fontana, MD, PhD / Julian Gillmore, MD, PhD, FRCP, FRCPath - Identifying Outcomes That Matter in ATTR-CM: Critical Considerations in the Interpretation of Contemporary Clinical Trials

Marianna Fontana, MD, PhD / Julian Gillmore, MD, PhD, FRCP, FRCPath - Identifying Outcomes That Matter in ATTR-CM: Critical Considerations in the Interpretation of Contemporary Clinical Trials

Marianna Fontana, MD, PhD / Julian Gillmore, MD, PhD, FRCP, FRCPath - Identifying Outcomes That Matter in ATTR-CM: Critical Considerations in the Interpretation of Contemporary Clinical Trials

Neste episódio do GeriPills, vamos direto ao ponto: quando suspeitar de amiloidose por transtirretina na prática do consultório? A partir de um caso clínico realista, discutimos as pistas clínicas que devem levantar a suspeita da forma selvagem da ATTR em idosos com insuficiência cardíaca com fração de ejeção preservada. Você vai aprender a reconhecer sinais como hipertrofia ventricular esquerda desproporcional, ECG com baixa voltagem, síndrome do túnel do carpo bilateral e estenose de canal lombar — além de entender os passos para o diagnóstico e, principalmente, por que é fundamental não deixar essa condição passar batida. A boa notícia? Tem tratamento, e iniciar precocemente pode fazer toda a diferença. Aperte o play e atualize sua prática com dicas objetivas e baseadas em evidências. Assine o GeriUpdates https://www.gericlass.com.br/op/geriupdates//

JACC: Associate Editor Michelle M. Kittleson, MD, PhD, FACC, and JACC: CardioOncology Deputy Editor Ronald Witteles, MD, FACC, discuss the current findings on the impact of vutrisiran in patients with transthyretin amyloidosis with cardiomyopathy (ATTR-CM). This study on HELIOS-B comprises details on cardiovascular (CV) events and provides updated mortality analyses from a later data cut than the primary analysis. Risk of ACM and CV events, including CV hospitalizations and heart failure events, was reduced with vutrisiran versus placebo in the overall population, with consistent trends regardless of baseline tafamidis use. These findings reinforce the balanced benefit on mortality and CV events demonstrated in the primary analysis of HELIOS-B.

This episode of Don't Miss a Beat centers on the evolving treatment landscape for transthyretin amyloid cardiomyopathy (ATTR-CM) with special guest Ahmad Masri, MD. Hosts Muthiah Vaduganathan, MD, MPH, a cardiologist and codirector of the Center for Cardiometabolic Implementation Science at Brigham and Women's Hospital, and Steve Greene, MD, an advanced heart failure specialist at Duke University School of Medicine, are joined by Masri, who serves as the director of the HCM and Amyloid Program at Oregon Health & Science University, to discuss the rapid therapeutic advances in ATTR-CM and the emerging questions shaping real-world clinical practice. Masri reviews the progression from a previously untreatable disease to one now managed with three US Food and Drug Administration (FDA)-approved disease-modifying agents: tafamidis (VYNDAMAX), acoramidis (Attruby), and vutrisiran (AMVUTTRA). He highlights the tafamidis approval in 2019 as a landmark in the field, showing a substantial survival benefit in the ATTR-ACT trial, followed by similar results from acoramidis, which received approval in late 2024, in ATTRibute-CM. Vutrisiran, a TTR gene silencer approved by the FDA in March 2025, represents a mechanistically distinct approach validated in the HELIOS-B trial. Despite these advances, Masri notes that patients with late-stage disease derive limited symptomatic benefit and that residual risk remains high, even with treatment. The conversation explores whether stabilizers and silencers can or should be combined, with Masri urging caution, citing the absence of clinical data demonstrating additive benefit and warning against assumptions of harmony without clinical evidence. Masri indicated ongoing trials, such as CARDIO-TTRansform, may offer clarity on this issue. Without direct comparisons between therapies, treatment selection often hinges on patient preference, delivery method, pill burden, and payer coverage. In practice, clinicians rely on pharmacodynamic markers, like changes in TTR levels, to assess treatment effect and adjust therapy accordingly. Masri emphasizes that while ATTR-CM trials may not show improvements in quality-of-life scores, slowing disease progression remains a critical and meaningful endpoint in this severe, high-mortality condition. Looking ahead, the panel discusses the next wave of therapeutic innovation. Multiple trials are now testing agents that aim to clear amyloid from the myocardium, including NI006 (ALXN2220), PRX004, and AT-02. These immune-modulating treatments are designed for long-term use and may complement stabilizers or silencers in patients with established amyloid burden. The episode closes with a discussion on prevention. For patients with asymptomatic cardiac involvement, current therapies halt disease progression entirely in many cases. For those with pathogenic TTR variants but no overt disease, surveillance is the current standard. However, Masri introduces the ACT Early trial, which will test whether early treatment with acoramidis can prevent the onset of clinical disease in high-risk individuals, potentially reshaping the paradigm of ATTR-CM care. Relevant disclosures for Vaduganathan include Amgen, AstraZeneca, Bayer AG, Boehringer Ingelheim Pharmaceuticals, Cytokinetics, Lexicon, and others. Relevant disclosures for Greene include Amgen, AstraZeneca, Bayer Healthcare Pharmaceuticals, Boehringer Ingelheim Pharmaceuticals, Cytokinetics, and others. Key Episode Timestamps 00:00:00 Introduction and Guest Introduction 00:00:52 Current State of Amyloid Therapeutics 00:03:41 Introduction of New Stabilizers and Silencers 00:06:05 Combination Therapy and Clinical Data 00:10:36 Choosing Therapy for Patients 00:16:40 Disease Progression and Clinical Trials 00:20:28 Pipeline and Future Therapies 00:23:51 Preventative Therapy and Asymptomatic Patients 00:27:19 Conclusion and Future Directions

On this week's episode, Sam Fazeli, Eric Schmidt, and Brian Skorney are joined by Roivant's Matthew Gline to discuss data, deals and the latest policy updates. The episode kicks off with concerns over potential U.S. Department of Health and Human Services (HHS) funding cuts for domestic HIV programs, with the group analyzing the impact on companies like Gilead and GSK, whose HIV prevention drugs have driven significant investor enthusiasm. They then discuss the uncertainty surrounding the new administration's commitment to public health initiates, considering Robert F. Kennedy Jr.'s appointment as HHS Secretary and his past controversial views on vaccines and HIV prevention. The conversation then shifts to data, including positive results from Immunovant and Roivant's Phase 3 study of batoclimab for myasthenia gravis. The group also examines the surprising absence of short sellers engaging with Roivant post-data release, highlighting shifts in biotech trading strategies. In the muscular dystrophy space, new exon-skipping therapies from Avidity and Dyne show unprecedented dystrophin restoration, suggesting potential functional benefits. However, the tragic death of a patient treated with Sarepta's gene therapy, Elevidys, reignites concerns about accelerated approvals and the FDA's risk-benefit calculus in rare disease research. On the deal-making front, AstraZeneca's $425M acquisition of stealth-mode cell therapy startup EsoBiotec and Sanofi's $600M deal with Dren Bio underscore biotech's valuation disconnect, where early-stage private assets command premium prices while public biotechs struggle. The episode closes with insights into Alnylam's broad label win for Amvuttra in ATTR cardiomyopathy and AstraZeneca's $2.5B investment in biotech agreements and manufacturing in China, reflecting its long-term strategic vision despite ongoing geopolitical tensions. *This episode aired on March 21, 2025

Philip's journey with ATTR began with unexplained weight loss and gastrointestinal issues that puzzled doctors for years. Despite seeing multiple specialists, his condition remained undiagnosed until a physician at Johns Hopkins finally connected the dots, confirming ATTR. By then, Philip had lost 60 pounds and was on the brink of survival. In today's episode of On Rare, David Rintell, Head of Patient Advocacy at BridgeBio, and Mandy Rohrig, Senior Director of Patient Advocacy at BridgeBio Gene Therapy, speak with Philip and his wife, Sally, who has helped to navigate the frustrating medical system, advocate for answers, and ultimately helped Philip receive life-saving IV nutrition. After years of uncertainty, Philip finally found an expert team with the knowledge, treatment, and community they needed. Philip and Sally share their story of perseverance, partnership, and hope for a brighter future. Dr. Adam Castaño, head of the Amyloid Prevention Program at BridgeBio, provides a medical overview of TTR amyloidosis (ATTR), a rare, progressive disease caused by misfolded transthyretin (TTR) proteins that form amyloid deposits in different parts of the body such as the heart, the peripheral nervous system, and the gastrointestinal tract. These deposits lead to debilitating symptoms including heart failure, neuropathy, and digestive issues, often mimicking common age-related conditions and possibly contributing to underdiagnosis. ATTR can be hereditary, but it also develops in the general population (this is called wild type). Advancements in non-invasive imaging and specialized protein staining have improved early detection, offering hope for better disease management.

Watch here for a video interview with JACC Associate Editor Michelle Kittleson, MD, FACC, and author Mathew S. Muarer, MD, FACC, as they discuss Dr. Maurer's study published in JACC and presented at ACC.25. This exploratory analysis of HELIOS-B assessed the efficacy of vutrisiran versus placebo in patients with transthyretin amyloidosis with cardiomyopathy (ATTR-CM) by subgroups of baseline heart failure severity (primarily by NYHA class and NT-proBNP levels). Vutrisiran showed evidence of benefit vs placebo on mortality, cardiovascular events, functional capacity, quality of life, and cardiac biomarkers across the range of baseline disease severities in patients enrolled in HELIOS-B, with greatest benefit observed in patients with earlier, less severe disease.

Host: Michelle Kittleson, MD, PhD Transthyretin cardiac amyloidosis (ATTR-CM) is an underrecognized disorder, leading to a variety of unmet needs for patients. Dr. Michelle Kittleson, Director of Postgraduate Education in Heart Failure and Transplantation and Professor of Medicine at the Cedars-Smidt Heart Institute, explores these challenges and discusses how early recognition, genetic screening, and emerging therapies can help improve patient outcomes.

In this episode, Dr. Valentin Fuster highlights a groundbreaking study on acoramides, a novel treatment for transthyretin amyloid cardiomyopathy (ATTR), which shows significant reductions in mortality and cardiovascular hospitalizations compared to a placebo. Experts discuss the clinical implications, comparing acoramides to the previously approved tafamidis, noting exciting advancements in treatments for a once-untreatable disease.

CardioNerds Cardiac Amyloidosis Series Chair Dr. Rick Ferraro and Episode Lead Dr. Anna Radakrishnan discuss the biology of transthyretin amyloid cardiomyopathy (ATTR-CM ) with Dr. Daniel Judge.  Notes were drafted by Dr. Anna Radakrishnan. The audio was engineered by student Dr. Julia Marques.  This episode provides a comprehensive overview of transthyretin (ATTR) cardiac amyloidosis, a complex and rapidly evolving disease process. The discussion covers the key red flags for cardiac amyloidosis, the diagnostic pathway, and the implications of hereditary versus wild-type ATTR. Importantly, the episode delves into the current and emerging therapies for ATTR, including stabilizers, gene silencers, and promising treatments like CRISPR-Cas9 and antibody-based approaches. Dr. Judge shares his insights and excitement about the rapidly advancing field, highlighting the need for early diagnosis and the potential to improve long-term outcomes for patients with this condition.  Enjoy this Circulation Paths to Discovery article to learn more about the CardioNerds mission and journey.  US Cardiology Review is now the official journal of CardioNerds! Submit your manuscripts here.  CardioNerds Cardiac Amyloid PageCardioNerds Episode Page Pearls: - Biology of Transthyretin amyloid cardiomyopathy Maintain a high index of suspicion! Look for subtle (yet telling) signs like ventricular hypertrophy, discordant EKG findings, bilateral carpal tunnel syndrome, and spontaneous biceps tendon rupture.  Utilize the right diagnostic tests. Endomyocardial biopsy remains the gold standard, but non-invasive tools like PYP scan with SPECT imaging and genetic testing are essential for accurate diagnosis.  Differentiating hereditary from wild-type ATTR is critical, as genetic forms may have a more aggressive course and familial implications.  Early diagnosis and intervention significantly improve prognosis, making vigilance in screening and prompt treatment initiation essential.  The future is now! Cutting-edge therapies are transforming the treatment landscape, including TTR stabilizers, gene silencers, and emerging technologies like CRISPR-Cas9 and antibody-based treatments.  Notes - Biology of Transthyretin amyloid cardiomyopathy What is transthyretin amyloid (aTTR) and how is it derived?  Transthyretin (TTR) is a transport protein primarily synthesized by the liver, responsible for carrying thyroid hormones (thyroxine) and retinol (vitamin A) in the blood. It circulates as a tetramer, composed of four identical monomers, which is essential for its stability and function.  In transthyretin amyloid (ATTR) amyloidosis, the TTR protein becomes unstable, leading to its dissociation into monomers. These monomers misfold and aggregate into insoluble amyloid fibrils, which deposit extracellularly in tissues such as the heart, nerves, and gastrointestinal tract. This progressive amyloid deposition leads to organ dysfunction, including restrictive cardiomyopathy and neuropathy.  There are two main forms of ATTR amyloidosis: hereditary (variant) and wild-type (senile) ATTR.  Hereditary ATTR (ATTRv) is caused by mutations in the TTR gene. These mutations destabilize the TTR tetramer, making it more prone to dissociation. This increases misfolding and amyloid fibril formation, resulting in systemic amyloid deposition.   Wild-type ATTR (ATTRwt) occurs without genetic mutations and is primarily age-related. Over time, even normal TTR tetramers can become unstable, leading to gradual misfolding and amyloid deposition, particularly in the heart. ATTRwt is a common but often underdiagnosed cause of heart failure with preserved ejection fraction (HFpEF) in elderly individuals.  How does aTTR lead to deleterious effects in the heart and other organ systems?    Transthyretin amyloidosis leads to organ dysfunction through the deposition of misfolded TTR protein as amyloid fib...

A comprehensive overview of transthyretin amyloidosis, its treatment, barriers to treatment, and future challenges to be aware of with authors, Drs. Erika L. Hellenbart and Robert J. DiDomenico. Full text of the manuscript is available at: https://accpjournals.onlinelibrary.wiley.com/doi/10.1002/phar.4639.

6th AHA 2024: ATTR Cardiomyopathy

Join CardioNerds Heart Failure Section Chair Dr. Jenna Skowronski, episode lead Dr. Apoorva Gangavelli, and expert faculty Dr. Ronald Witteles as they discuss the Nex-Z trial. This was a phase 1, open-label trial investigating nex-z, a CRISPR-Cas9-based treatment, in 36 patients with transthyretin amyloidosis with cardiomyopathy (ATTR-CM). The primary objectives were aimed at studying the safety and pharmacodynamics of this novel gene-based treatment modality. This episode dives into the nuances of the data, future directions for investigation, and future clinical implications. CardioNerds Journal Club PageCardioNerds Episode PageCardioNerds AcademyCardionerds Healy Honor Roll CardioNerds Journal ClubSubscribe to The Heartbeat Newsletter!Check out CardioNerds SWAG!Become a CardioNerds Patron! References - The Nex-Z Trial Fontana, M., Solomon, S. D., Kachadourian, J., Walsh, L., Rocha, R., Lebwohl, D., Smith, D., Täubel, J., Gane, E. J., Pilebro, B., Adams, D., Razvi, Y., Olbertz, J., Haagensen, A., Zhu, P., Xu, Y., Leung, A., Sonderfan, A., Gutstein, D. E., & Gillmore, J. D. (2024). CRISPR-Cas9 Gene Editing with Nexiguran Ziclumeran for ATTR Cardiomyopathy. The New England Journal of Medicine. https://doi.org/10.1056/NEJMoa2412309

Στο πρώτο επεισόδιο του 2025, συζητάμε μαζί με τον κ. Αλέξιος Αντωνόπουλος για την καρδιακή αμυλοείδωση. Ποιοι είναι οι κύριοι τύποι καρδιακής αμυλοείδωσης; Πως γίνεται η διάγνωση της καρδιακής αμυλοείδωσης? Σποραδική vs κληρονομική ATTR αμυλοδείδωση. Έχει σημασία; Ποιες είναι οι θεραπείες της αμυλοείδωσης; Που βρισκόμαστε στην Ελλάδα; Καλή ακρόαση!

Featuring articles on advanced melanoma, atrial fibrillation, ATTR amyloidosis, and bladder cancer; a review article on cervical cancer; a Clinical Problem-Solving describing when blurry vision clouds the bigger picture; Medicine and Society's on transitional justice and on rethinking access to HIV medicines; and Perspectives on hepatitis C therapies, on when diversity goals meet multiregional trials, and on miles to go and nowhere to sleep.

Host: John Russell, MD Guest: Noel Dasgupta, MD, FACC Guest: Sami Khella, MD Amyloidosis, often unrecognized, misdiagnosed, and either inappropriately treated or undertreated, is a collection of diseases caused by the misfolding of proteins that aggregate into insoluble amyloid fibrils and deposit in tissues. There are two prominent forms of amyloidosis misfolding of light chain proteins (AL amyloidosis) and transthyretin protein misfolding (ATTR amyloidosis). In this program, two experts in amyloidosis, cardiologist Dr. Noel Dasgupta and neurologist Dr. Sami Khella, will explain the pathophysiology of amyloidosis, describe the prognosis for patients, discuss timely patient screening and diagnostic testing, and provide updated treatment options.

CME credits: 0.50 Valid until: 13-12-2025 Claim your CME credit at https://reachmd.com/programs/cme/best-practices-for-identifying-diagnosing-and-treating-transthyretin-amyloidosis-attr-pn-and-attr-cm/26799/ Amyloidosis, often unrecognized, misdiagnosed, and either inappropriately treated or undertreated, is a collection of diseases caused by the misfolding of proteins that aggregate into insoluble amyloid fibrils and deposit in tissues. There are two prominent forms of amyloidosis misfolding of light chain proteins (AL amyloidosis) and transthyretin protein misfolding (ATTR amyloidosis). In this program, two experts in amyloidosis, cardiologist Dr. Noel Dasgupta and neurologist Dr. Sami Khella, will explain the pathophysiology of amyloidosis, describe the prognosis for patients, discuss timely patient screening and diagnostic testing, and provide updated treatment options. =

CME credits: 0.50 Valid until: 13-12-2025 Claim your CME credit at https://reachmd.com/programs/cme/the-shifting-attr-cm-landscape-early-diagnosis-emerging-therapies-personalized-care/27090/ Achieving optimal outcomes in patients with transthyretin amyloid cardiomyopathy (ATTR-CM) remains a challenge as diagnosis is often delayed. Patients have a reduced life expectancy and experience debilitating pain and poor quality of life. Hear from the experts as they review the latest information on new and emerging treatment options for transthyretin amyloidosis and how this condition affects patients with cardiomyopathy.=

Featuring articles on PCI before transcatheter aortic-valve implantation, treatments in patients with type 2 diabetes, in leprosy, in refractory adult ALL, and in ATTR cardiomyopathy; a review article on drug reaction with eosinophilia and systemic symptoms; a case report of a boy with recurrent fever; and Perspectives on an autopsy of a drug withdrawal, on clearing dense drug-patent thickets, on how a survey change sheds light on iatrogenic opioid use disorder and on being tethered.

Charles, a recently retired cardiologist of 53 years, speaks with David Rintell, Head of Patient Advocacy at BridgeBio, and Mandy Rohrig, Director of Patient Advocacy at BridgeBio Gene Therapy, about how his unexpected early diagnosis of ATTR-CM likely impacted the trajectory of his disease. Dr. Jonathan Fox, President and Chief Medical Officer of cardiorenal programs at BridgeBio, explains how ATTR affects the heart and peripheral nervous system, and the importance of early diagnosis.   For years, Charles suffered from numbness and tingling in both wrists and hands. Eventually, when the pain became so severe that operating a mouse for 10 to 15 minutes was difficult, he was referred to a hand surgeon who recommended carpal tunnel surgery. Preparing for the surgery, Charles recalled reading a medical journal article that indicated 10% of people who underwent carpel tunnel surgery had positive tissue biopsy indicative of ATTR-CM. He requested that his surgeon perform a biopsy and shortly thereafter received his diagnosis. The transition from doctor to patient was not easy for Charles. However, he feels fortunate to be a cardiologist, to have read and remembered the article, requested a biopsy, and received the diagnosis more quickly than many others who live with ATTR. “I have three passions: running, traveling, and teaching," Charles shared. The early diagnosis has allowed him to continue to live a full, active life, running nearly daily as he has for the past 45 years. Charles, now 86, continues to serve others, spending his retirement teaching and mentoring health care providers around the country about ATTR and volunteering for amyloidosis advocacy organizations.

For more information regarding this CME/CE activity and to complete the CME/CE requirements and claim credit for this activity, visit:https://www.mycme.com/courses/questions-and-answers-on-amyloid-cardiomyopathy-and-polyneuropathy-9845SummaryIn this activity – which learners can review as a podcast or a webcast - Drs. Chafic Karam and Michelle Kittleson dive into five key questions from recent live-virtual broadcasts about transthyretin amyloidosis (ATTR). They discuss the role of cardiac MRI, biopsy, and genetic testing in diagnosing ATTR cardiomyopathy and polyneuropathy. They also explore treatment options, including silencing therapies and stabilizers, with insights into when patients should be referred for specialized care. The conversation emphasizes the importance of early diagnosis, collaborative care between neurologists and cardiologists, and the expanding therapeutic landscape for ATTR.Learning ObjectivesAt the conclusion of this activity, participants should be better able to:Describe the correct diagnostic algorithm for suspected ATTR, including interpretation of the monoclonal protein screen and indications for biopsy and genetic testing.Initiate appropriate management, including disease-directed therapy and appropriate cardiac care, or referral when indicated.This activity is accredited for CME/CE CreditAssociation of Black Cardiologists, Inc. (ABC) is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.Association of Black Cardiologists, Inc. designates this enduring material for a maximum of 0.25 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.This activity has been planned and implemented in accordance with the Accreditation Standards of the American Association of Nurse Practitioners® (AANP) through the joint providership of the National Association for Continuing Education (NACE) and ABC. NACE is accredited by the AANP as an approved provider of nurse practitioner continuing education. Provider number 121222. This activity is approved for 0.25 contact hours (which does not include hours of pharmacology).In support of improving patient care, this activity has been planned and implemented by Haymarket Medical Education (HME) and NACE. Haymarket Medical Education is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.This knowledge-based activity JA4008232-9999-24-043-H01-P qualifies for 0.25 contact hours (0.025 CEUs) of continuing pharmacy education credits.For additional information about the accreditation of this program, please contact NACE at info@naceonline.com.Summary of Individual DisclosuresPlease review faculty and planner disclosures here.Disclosure of Commercial SupportThis educational activity is supported by an educational grant from Alnylam Pharmaceuticals, Inc., and an educational grant from AstraZeneca Pharmaceuticals.Please visit http://naceonline.com to engage in more live and on demand CME/CE content.

Biopharma had its collective deal-making hat on heading into the Thanksgiving holiday, with Roche buying Poseida for up to $1.5 billion, and Sarepta and Arrowhead tying up in a collaboration potentially worth up to $10 billion. These announcements followed last week's news from Novartis, which snatched up Kate Therapeutics for a little over $1 billion while promising more acquisitions below $5 billion. On the regulatory front, the FDA gave BridgeBio—and transthyretin amyloid cardiomyopathy (ATTR-CM) patients—something to be thankful for late last week with the approval of Attruby for the rare, cardiovascular disease. The nod sets up a potential three-way race with Pfizer's tafamidis and Alnylam's Amvuttra, the latter of which was accepted for FDA review in ATTR-CM on Monday.   On the opposite end of the clinical development spectrum, Cassava Sciences' controversial Alzheimer's drug failed to reduce cognitive or functional decline in a Phase III trial. And investors were unimpressed by the 20% weight loss generated by Amgen's MariTide in a much-anticipated Phase II trial, as the company's stock tumbled 11% Tuesday. Drawing much attention from the biopharma industry, President-elect Donald Trump continued with his nominees for top healthcare posts, announcing COVID-19 critic Marty Makary to lead the FDA and well-known vaccine skeptic Dave Weldon for CDC director. Meanwhile, the FDA is grappling with the loss of Chevron Deference pertaining to a legal challenge over Eli Lilly's GLP-1 shortages. Finally, the next generation of antibody-drug conjugates remains hot, with Danish biotech Adcendo reeling in $135M in a Series B financing round.

Good morning from Pharma and Biotech daily: the podcast that gives you only what's important to hear in Pharma and Biotech world.Next-generation antibody-drug conjugates (ADCs) are driving a renaissance in the oncology drug class, with companies like ADC Therapeutics, Sutro Biopharma, and Zai Lab developing new ADCs to address challenges with payload and toxicity. BridgeBio recently secured FDA approval for its drug to treat ATTR-CM, launching competition with Pfizer in the market. Meanwhile, Sage Therapeutics faced setbacks with the discontinuation of its lead candidate for Huntington's disease after a third clinical failure. Applied Therapeutics is awaiting FDA verdict on a rare disease therapy, while AstraZeneca successfully defended its drug Andexxa against safety concerns. Other developments include patient death in a Rett syndrome trial, Merck's asthma drug Singulair potentially linked to mental health problems, and Intellia's CRISPR gene editor showing promise in ATTR amyloidosis.The biopharma industry is seeing advancements and challenges across various therapeutic areas, prompting discussions on future coverage topics in neuroscience, oncology, cell & gene therapy, and more.

JACC: Associate Editor Michelle M. Kittleson, MD, PhD, FACC, talks with authors Scott Solomon, MD, FACC and. Marianna Fontana, MD, about their study published in JACC and presented at AHA. Outpatient worsening heart failure (HF) (oral diuretic intensification or initiation) is simple to assess and has been shown to be prognostic of mortality in patients with ATTR-CM. In this pre-specified analysis of a contemporary ATTR-CM population, patients with outpatient worsening HF had an increased risk of all-cause mortality and CV events and all-cause mortality, as well as greater deterioration in assessments of functional capacity, health status, and quality of life. Vutrisiran significantly reduced the risk of outpatient worsening HF and the composite of outpatient worsening HF, all-cause mortality, and recurrent CV events compared with placebo.

Did you miss AHA 2024? Listen here to brief discussions of the latest research. Eric Rubin is the Editor-in-Chief of the Journal. Jane Leopold is a Deputy Editor of the Journal. Stephen Morrissey, the interviewer, is the Executive Managing Editor of the Journal. E.J. Rubin, J. Leopold, and S. Morrissey. NEJM at AHA — CRISPR-Cas9 Gene Editing with Nexiguran Ziclumeran for ATTR Cardiomyopathy. N Engl J Med. DOI: 10.1056/NEJMe2414473.

For more information regarding this CME/CE activity and to complete the CME/CE requirements and claim credit for this activity, visit:https://www.mycme.com/courses/management-of-amyloid-cardiomyopathy-and-polyneuropathy-9813SummaryIn this CME/CE podcast episode, Cardiologist Dr. Michelle Kittleson and Neurologist Dr. Chafic Karam discuss the multidisciplinary management of transthyretin amyloidosis (ATTR). They explore how ATTR affects both the heart and the nervous system, focusing on recognizing symptoms, diagnosing the disease, and managing treatment. Dr. Karam shares insights on peripheral neuropathy caused by amyloidosis, including clues that suggest amyloidosis over more common neuropathies. Dr. Kittleson highlights how cardiologists assess and manage TTR cardiomyopathy, emphasizing the importance of early diagnosis and the evolving therapeutic landscape. Together, they discuss the collaborative nature of care, the impact of new therapies on clinical outcomes, and the importance of raising awareness for ATTR.Learning ObjectivesDescribe the correct diagnostic algorithm for suspected ATTR, including interpretation of the monoclonal protein screen and indications for biopsy and genetic testingInitiate appropriate management, including disease-directed therapy and appropriate cardiac care, or referral when indicatedThis activity is accredited for CME/CE CreditAssociation of Black Cardiologists, Inc. (ABC) is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.Association of Black Cardiologists, Inc. designates this enduring material for a maximum of 0.25 AMA PRA Category 1 CreditsTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity.This activity has been planned and implemented in accordance with the Accreditation Standards of the American Association of Nurse Practitioners® (AANP) through the joint providership of the National Association for Continuing Education (NACE) and ABC. NACE is accredited by the AANP as an approved provider of nurse practitioner continuing education. Provider number 121222. This activity is approved for 0.25 contact hours (which does not include hours of pharmacology).For additional information about the accreditation of this program, please contact NACE at info@naceonline.com.Summary of Individual DisclosuresPlease review faculty and planner disclosures here.Disclosure of Commercial SupportThis educational activity is supported by an educational grant from Alnylam Pharmaceuticals Inc., and an educational grant from AstraZeneca Pharmaceuticals.Please visit http://naceonline.com to engage in more live and on demand CME/CE content.

This content has been developed for healthcare professionals only. Patients who seek health information should consult with their physician or relevant patient advocacy groups.For the full presentation, downloadable Practice Aids, slides, and complete CME information, and to apply for credit, please visit us at PeerView.com/TDS865. CME credit will be available until October 23, 2025.TTRansforming the TTReatment of ATTR: A Guide to the Pathophysiology, Diagnosis, and Emerging Treatment Strategies for ATTR Amyloidosis In support of improving patient care, PVI, PeerView Institute for Medical Education, is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.SupportThis activity is supported by an independent educational grant from AstraZeneca LP.Disclosure information is available at the beginning of the video presentation.

This content has been developed for healthcare professionals only. Patients who seek health information should consult with their physician or relevant patient advocacy groups.For the full presentation, downloadable Practice Aids, slides, and complete CME information, and to apply for credit, please visit us at PeerView.com/TDS865. CME credit will be available until October 23, 2025.TTRansforming the TTReatment of ATTR: A Guide to the Pathophysiology, Diagnosis, and Emerging Treatment Strategies for ATTR Amyloidosis In support of improving patient care, PVI, PeerView Institute for Medical Education, is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.SupportThis activity is supported by an independent educational grant from AstraZeneca LP.Disclosure information is available at the beginning of the video presentation.

This content has been developed for healthcare professionals only. Patients who seek health information should consult with their physician or relevant patient advocacy groups.For the full presentation, downloadable Practice Aids, slides, and complete CME information, and to apply for credit, please visit us at PeerView.com/TDS865. CME credit will be available until October 23, 2025.TTRansforming the TTReatment of ATTR: A Guide to the Pathophysiology, Diagnosis, and Emerging Treatment Strategies for ATTR Amyloidosis In support of improving patient care, PVI, PeerView Institute for Medical Education, is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.SupportThis activity is supported by an independent educational grant from AstraZeneca LP.Disclosure information is available at the beginning of the video presentation.

This content has been developed for healthcare professionals only. Patients who seek health information should consult with their physician or relevant patient advocacy groups.For the full presentation, downloadable Practice Aids, slides, and complete CME information, and to apply for credit, please visit us at PeerView.com/TDS865. CME credit will be available until October 23, 2025.TTRansforming the TTReatment of ATTR: A Guide to the Pathophysiology, Diagnosis, and Emerging Treatment Strategies for ATTR Amyloidosis In support of improving patient care, PVI, PeerView Institute for Medical Education, is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.SupportThis activity is supported by an independent educational grant from AstraZeneca LP.Disclosure information is available at the beginning of the video presentation.

This content has been developed for healthcare professionals only. Patients who seek health information should consult with their physician or relevant patient advocacy groups.For the full presentation, downloadable Practice Aids, slides, and complete CME information, and to apply for credit, please visit us at PeerView.com/TDS865. CME credit will be available until October 23, 2025.TTRansforming the TTReatment of ATTR: A Guide to the Pathophysiology, Diagnosis, and Emerging Treatment Strategies for ATTR Amyloidosis In support of improving patient care, PVI, PeerView Institute for Medical Education, is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.SupportThis activity is supported by an independent educational grant from AstraZeneca LP.Disclosure information is available at the beginning of the video presentation.

This content has been developed for healthcare professionals only. Patients who seek health information should consult with their physician or relevant patient advocacy groups.For the full presentation, downloadable Practice Aids, slides, and complete CME information, and to apply for credit, please visit us at PeerView.com/TDS865. CME credit will be available until October 23, 2025.TTRansforming the TTReatment of ATTR: A Guide to the Pathophysiology, Diagnosis, and Emerging Treatment Strategies for ATTR Amyloidosis In support of improving patient care, PVI, PeerView Institute for Medical Education, is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.SupportThis activity is supported by an independent educational grant from AstraZeneca LP.Disclosure information is available at the beginning of the video presentation.

JACC: Heart Failure Social Media Editor Giorgia Benzoni, MD, discusses a recently published Leading Edge Commentary comparing the pathophysiological differences between ATTR and AL cardiac amyloidosis and implications for therapy.

Good morning from Pharma and Biotech Daily: the podcast that gives you only what's important to hear in Pharma and Biotech world.Medtronic's chief medical officer of acute care and monitoring has departed for a new role. The FDA has finalized voluntary malfunction summary reporting guidance. Penumbra is laying off 71 people after axing its virtual reality division. Qiagen and AstraZeneca have expanded their companion diagnostic pact. The Association for Molecular Pathology is suing to block an FDA lab test rule. Layoffs in the medical device industry continue to be a trend. Industry news includes the launch of the first over-the-counter glucose monitor, unexpected partnerships in diabetes tech, and pushback on FDA regulation of lab-developed tests.The text discusses various updates in the biopharma industry, including Alnylam's heart drug data sparking debate, Novo building a heart failure case for semaglutide, and a slump in cell and gene therapy investment. The industry is shifting towards more patient-centric commercialization strategies, with companies like Pfizer and Lilly breaking into the direct-to-consumer market. The summer has been a mixed bag for biotech, with market fluctuations and limited IPOs and acquisitions. Alnylam's full study data on its heart drug vutrisiran showed benefits but also raised skepticism. Novo's analysis showed semaglutide's effectiveness in reducing heart failure risk. Additionally, PBM executives are facing fines for alleged perjury in a house hearing defending their business practices.The text discusses the pricing and sales of gene therapies, particularly focusing on Novartis' Zolgensma, which has been the only gene therapy to cross the blockbuster threshold with sales of $1.2 billion in 2021 and $1.4 billion in 2022. While high price tags have not always resulted in significant returns for pharmaceutical companies with gene therapies, Zolgensma has been an exception. Other companies have faced challenges with new gene therapies, such as Biomarin Pharmaceuticals, which recently announced layoffs due to dismal sales of its hemophilia A gene therapy Roctavian.Alnylam Pharmaceuticals has released detailed data on their drug Vutrisiran, showing its benefits in treating a progressive and fatal heart condition known as ATTR cardiomyopathy. The results were published in the New England Journal of Medicine. While the data confirms the therapy's benefit, there are still questions about how exactly Vutrisiran should be used in treating the disease. The study is expected to continue to fuel debate among doctors.The text discusses the recent slump in investment in cell and gene therapy, with fewer venture funding rounds closed by developers in the first six months of 2024. Two companies, Biomarin and Tome Biosciences, are cutting jobs, with over 200 and over 100 layoffs respectively. Biomarin has made changes to its executive team and drug pipeline to refocus resources. Additionally, Bayer has partnered with RNA drugmaker Nextrna Therapeutics to develop new cancer therapies. The text also highlights the challenges faced in clinical trials, with nearly 80% failing to meet enrollment goals and schedules. The importance of understanding social determinants of health for research is emphasized.Biopharma Dive's Gene Therapy Weekly provides news and insights on gene therapy for biopharma leaders.

Sean joins David Rintell, Head of Patient Advocacy at BridgeBio, and Mandy Rohrig, Director of Patient Advocacy at BridgeBio Gene Therapy to share his journey with ATTR. In this episode, Sean describes his initial symptoms, which included carpal tunnel syndrome and numbness in his foot and ankle, the misdiagnosis he experienced, and his eventual diagnosis at the Cleveland Clinic in Abu Dhabi. While the diagnosis was a relief it was also difficult to accept and took an emotional toll on him and those around him. Sean has found this to be a common experience of many diagnosed with ATTR. Since Sean's form of ATTR is hereditary, various members of his family have also been tested. Sean also highlights the positive changes in his life, including meeting his wife, Robin, discovering a talent for drawing, and becoming a public speaker about ATTR. Jonathan Fox, President and Chief Medical Officer of cardiorenal programs at BridgeBio, joins us again to give a medical introduction to ATTR. On this episode, Jonathan highlights the differences of the ATTR T80 variant. Previously, we learned that ATTR amyloidosis is caused by the dissociation of a protein called transthyretin, or TTR, that changes its shape and forms into fibrous clumps. These clumps of misshapen protein are deposited into various organs and peripheral nerves, including the heart, which can cause them to function abnormally. Jonathan explains the possible origin of the T80 variant and how the T80 variant symptoms can differ from ATTR-CM.   To learn more about living with amyloidosis visit Mackenzie's Mission, www.mm713.org

In part two, Eric continues talking about his experience living with Transthyretin Amyloidosis (ATTR) with David Rintell, Head of Patient Advocacy at BridgeBio, and Mandy Rohrig, Director of Patient Advocacy at BridgeBio Gene Therapy. Eric recalls the surprise he experienced when a routine doctor's visit led to him, within hours, to undergoing a heart transplant. Though the surgery was successful, Eric describes his complex recovery from the transplant. Age, old sports injuries, and lingering ATTR symptoms all contributed to a year-long recovery process, which included a two-week stay in the hospital, followed by an acute rehabilitation facility, a few weeks in a hotel, and several more months of recovery at home. Eric ends the conversation by stressing the importance of community – strong connections with other people were not only crucial to his recovery, but also opened doors for mentorship, activism, and his current involvement with the Northern California Amyloidosis Support Group.

Systemic amyloidosis from transthyretin (ATTR) protein is increasingly recognized as an important cause of heart failure in older people. JAMA Deputy Editor Mary McGrae McDermott, MD, discusses the diagnosis and treatment of ATTR protein cardiomyopathy with Frederick L. Ruberg, MD, of the Boston University Chobanian & Avedisian School of Medicine. Related Content: Cardiac Amyloidosis Due to Transthyretin Protein