Podcasts about f508del

Dr. Charlotte McKee, Chief Medical Officer at Sionna, describes the nature of cystic fibrosis (CF, a genetic disease caused by a mutation in the single CFTR gene. While current CFTR modulator therapies do not address the most common mutation, Sionna's novel oral medicine is designed to target the previously undruggable NBDI domain of the CFTR protein. This new therapy aims to lead to better lung function and prevent the accumulation of permanent damage to other organs like the pancreas, gut, and liver.  Charlotte explains, "Cystic fibrosis is a genetic disease. The gene was actually discovered in 1989 for cystic fibrosis. It's considered a rare disease, but it's a relatively large rare disease. And one of those rare diseases that is potentially fatal, as you mentioned, it's thought of as a lung disease. And most patients, if their life is shortened, it's typically because of lung disease, because the lungs can be very severely affected. But the protein is caused by a genetic mutation in a gene called CFTR, and the protein is made from that gene. The CFTR protein is present on every epithelial cell of the body."   "Sionna is focused on a novel target in the CFTR protein. So you may know that, actually, there are approved medicines that have been developed over the last couple of decades that improve the function of the CFTR protein. And they've really advanced the clinical field, and there have been tremendous advances for people with CF. But this protein, this CFTR protein that goes wrong in CF, is a big, complicated, multi-part channel."   "Another unusual thing about CF is that there's one mutation that's so common around the world, and the part of CFTR that goes most wrong with F508del. This mutation is in a part of CFTR that was previously considered undruggable. It's that part that is called NBD1, and Sionna has been working for over a decade and a half of research, actually starting with Genzyme and then continuing through the company, Sanofi, has actually figured out how to develop potential medicines against this part of the CFTR protein that goes most wrong. And so we are working on these, they're called modulators, CFTR modulators, or we are working on NBD1-focused potential medicines that can directly bind to and stabilize this specific part of the CFTR protein."   #Sionna #CysticFibrosis #NBD1Stabilizers #CFTRModulators #RareDisease #Biotechnology #MedicalInnovation #PrecisionMedicine #GeneticDisease #PulmonaryHealth sionnatx.com Download the transcript here

Dr. Charlotte McKee, Chief Medical Officer at Sionna, describes the nature of cystic fibrosis (CF, a genetic disease caused by a mutation in the single CFTR gene. While current CFTR modulator therapies do not address the most common mutation, Sionna's novel oral medicine is designed to target the previously undruggable NBDI domain of the CFTR protein. This new therapy aims to lead to better lung function and prevent the accumulation of permanent damage to other organs like the pancreas, gut, and liver.  Charlotte explains, "Cystic fibrosis is a genetic disease. The gene was actually discovered in 1989 for cystic fibrosis. It's considered a rare disease, but it's a relatively large rare disease. And one of those rare diseases that is potentially fatal, as you mentioned, it's thought of as a lung disease. And most patients, if their life is shortened, it's typically because of lung disease, because the lungs can be very severely affected. But the protein is caused by a genetic mutation in a gene called CFTR, and the protein is made from that gene. The CFTR protein is present on every epithelial cell of the body."   "Sionna is focused on a novel target in the CFTR protein. So you may know that, actually, there are approved medicines that have been developed over the last couple of decades that improve the function of the CFTR protein. And they've really advanced the clinical field, and there have been tremendous advances for people with CF. But this protein, this CFTR protein that goes wrong in CF, is a big, complicated, multi-part channel."   "Another unusual thing about CF is that there's one mutation that's so common around the world, and the part of CFTR that goes most wrong with F508del. This mutation is in a part of CFTR that was previously considered undruggable. It's that part that is called NBD1, and Sionna has been working for over a decade and a half of research, actually starting with Genzyme and then continuing through the company, Sanofi, has actually figured out how to develop potential medicines against this part of the CFTR protein that goes most wrong. And so we are working on these, they're called modulators, CFTR modulators, or we are working on NBD1-focused potential medicines that can directly bind to and stabilize this specific part of the CFTR protein."   #Sionna #CysticFibrosis #NBD1Stabilizers #CFTRModulators #RareDisease #Biotechnology #MedicalInnovation #PrecisionMedicine #GeneticDisease #PulmonaryHealth sionnatx.com  Listen to the podcast here  

Recent developments in treatment for cystic fibrosis have targeted the underlying genetic defect and these have been life-changing for some patients. Kevin Southern from Alder Hey Children's Hospital in the UK is an Editor for the Cochrane Cystic Fibrosis Group and an author of the updated review of these corrective therapies, which was published in November 2023. Here he is to tell us about the review.

Recent developments in treatment for cystic fibrosis have targeted the underlying genetic defect and these have been life-changing for some patients. Kevin Southern from Alder Hey Children's Hospital in the UK is an Editor for the Cochrane Cystic Fibrosis Group and an author of the updated review of these corrective therapies, which was published in November 2023. Here he is to tell us about the review.

Annaka Haynes is a nursing student who has had Cystic Fibrosis since she was 6 weeks old. Trikafta developed by Vertex Pharmaceuticals was first approved by the FDA on October 21, 2019. This treatment is a triple combination regimen for cystic fibrosis patients starting at ages 2 years and older who have at least one F508del mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene or a mutation in the CFTR gene that is responsive to Trikafta based on in vitro data.

Bijal Trivedi is a journalist and an author. She spent 8 years writing the book, Breath from Salt.  It's an in-depth look at how parents with CF children banded together to start what is now the Cystic Fibrosis Foundation. Trivedi weaves a beautiful story of all the players, from CFF President Bob Beall, to Joe and Kathy O'Donnell's involvement and all the other parents intertwined along the way.  The scientists contributions are worked into the book beautifully.  You'll learn things about CF you may have never heard before, and you'll be cheering on those scientists. Trivedi recently became Senior Science Editor at National Geographic.   When Trivedi began Breath of Salt in 2012 she was familiar with a drug that would only help 4 percent of the CF population, she realized how quickly science was moving in the field of CF, and decided to write about the history of CF, and all who had a role in getting us to where we are today (2022).  No one in Trivedi's family has CF, but we certainly consider her family.  Her book teaches us not only about the beginning of the CF Foundation, but also about the parents who built it.  Our stories (Laura Bonnell and Beth Vanstone) are very similar in many respects. This podcast features Laura Bonnell and Beth Vanstone (two CF mom's). Vanstone lives in Canada where she has worked tirelessly to make CF drugs more accessible not only to her daughter Madi, but to other CF families.  She is a huge advocate and friend of The Bonnell Foundation.Links:Bijal's book: Breath from Salt: https://www.amazon.com/Breath-Salt-Patients-Families-Medicine/dp/1948836378For more information on The Bonnell Foundation find us at https://thebonnellfoundation.org/Vertex Pharma - the science of possibility.  https://www.vrtx.comSponsored by  https://www.fordfund.org/globalcaringmonth  The original music in this podcast is performed by Kevin Allan, who happens to have Cystic Fibrosis.  You can find him on Facebook here: https://www.facebook.com/KevinAllanMusicThis podcast was produced by JAG in Detroit Podcasts. https://jagindetroit.com/ 

This episode of Drug Cards Daily is on the drug Trikafta. As of 2020 it is Brand only. Trikafta consists of three drugs which are elexacaftor, ivacaftor, tezacaftor. It is twice a day dosing with 2 tablets in the morning and 1 tablet (12 hours later) in the evening. The morning tablet is orange in color and consists of elexacaftor 100 mg + tezacaftor 50mg + ivacaftor 75 mg while the evening dose (which is a light blue colored tablet) consists of ivacaftor 150 mg. Currently the drug is approved for use in ages 12 years and older. The main concerns are patients must have the F508del mutation in the CFTR gene have healthy liver function. Patients without the F508del mutation will not benefit from this drug. The other concern is that CYP3A inducers and inhibitors affect this drug greatly so that should always be considered when starting a patient on this treatment. Go to DrugCardsDaily.com for episode show notes which consist of the drug summary, quiz, and link to the drug card for FREE! Please SUBSCRIBE, FOLLOW, and RATE on Spotify, Apple Podcasts, or wherever your favorite place to listen to podcasts are. The main goal is to go over the Top 200 Drugs with the occasional drug of interest. Also, if you'd like to say hello, suggest a drug, or leave some feedback I'd really appreciate hearing from you! Leave a voice message at anchor.fm/drugcardsdaily or find me on twitter @drugcardsdaily --- Send in a voice message: https://anchor.fm/drugcardsdaily/message

New CFTR modulators for F508del mutations? New research into reducing inflammation in the CF lung? In this issue, Dr. Jennifer Taylor-Cousar from National Jewish Health in Denver explains the potential clinical impact of new and emerging CF disease modifying therapies.Take our post-test to claim CME credits. To read a companion newsletter click here. Hosted on Acast. See acast.com/privacy for more information.

New Directions in CFTR Modification

Future Landscape of CFTR Modulators

Learn about the 5 classes of CFTR mutations, the latest research on emerging therapies for each mutation class and follow four individuals with CF. These case-based modules were presented at the 36th European Cystic Fibrosis Society Conference in Lisbon, Portugal.

Presented at NACFC Anaheim 2011 this symposium presentation offers information on the current treatment options for patients with cystic fibrosis. Mike Boyle, MD, from Johns Hopkins University School of Medicine offers a 25-minute look at the basics of CF, then describes genotype and CF phenotype relationships. The presentation includes a review the influences of severity of lung disease and outcomes in CF, followed up by issues related to adherence.

Presented at NACFC Anaheim 2011 this symposium presentation offers information on the current treatment options for patients with cystic fibrosis. Mike Boyle, MD, from Johns Hopkins University School of Medicine offers a 25-minute look at the basics of CF, then describes genotype and CF phenotype relationships. The presentation includes a review the influences of severity of lung disease and outcomes in CF, followed up by issues related to adherence.

Presented at NACFC Anaheim 2011 this symposium presentation offers information on the current treatment options for patients with cystic fibrosis. Mike Boyle, MD, from Johns Hopkins University School of Medicine offers a 25-minute look at the basics of CF, then describes genotype and CF phenotype relationships. The presentation includes a review the influences of severity of lung disease and outcomes in CF, followed up by issues related to adherence.

Background: Knowledge of how CFTR mutations other than F508del translate into the basic defect in cystic fibrosis (CF) is scarce due to the low incidence of homozygous index cases.Methods: 17 individuals who are homozygous for deletions, missense, stop or splice site mutations in the CFTR gene were investigated for clinical symptoms of CF and assessed in CFTR function by sweat test, nasal potential difference and intestinal current measurement.Results: CFTR activity in sweat gland, upper airways and distal intestine was normal for homozygous carriers of G314E or L997F and in the range of F508del homozygotes for homozygous carriers of E92K, W1098L, R553X, R1162X, CFTRdele2(ins186) or CFTRdele2,3(21 kb). Homozygotes for M1101K, 1898+3 A-G or 3849+10 kb C-T were not consistent CF or non-CF in the three bioassays. 14 individuals exhibited some chloride conductance in the airways and/or in the intestine which was identified by the differential response to cAMP and DIDS as being caused by CFTR or at least two other chloride conductances.Discussion: CFTR mutations may lead to unusual electrophysiological or clinical manifestations. In vivo and ex vivo functional assessment of CFTR function and in-depth clinical examination of the index cases are indicated to classify yet uncharacterised CFTR mutations as either disease-causing lesions, risk factors, modifiers or neutral variants.

Presented at NACFC Anaheim 2011 this symposium presentation offers information on the current treatment options for patients with cystic fibrosis. Mike Boyle, MD, from Johns Hopkins University School of Medicine offers a 25-minute look at the basics of CF, then describes genotype and CF phenotype relationships. The presentation includes a review the influences of severity of lung disease and outcomes in CF, followed up by issues related to adherence.

Presented at NACFC Anaheim 2011 this symposium presentation offers information on the current treatment options for patients with cystic fibrosis. Mike Boyle, MD, from Johns Hopkins University School of Medicine offers a 25-minute look at the basics of CF, then describes genotype and CF phenotype relationships. The presentation includes a review the influences of severity of lung disease and outcomes in CF, followed up by issues related to adherence.

Presented at NACFC Anaheim 2011 this symposium presentation offers information on the current treatment options for patients with cystic fibrosis. Mike Boyle, MD, from Johns Hopkins University School of Medicine offers a 25-minute look at the basics of CF, then describes genotype and CF phenotype relationships. The presentation includes a review the influences of severity of lung disease and outcomes in CF, followed up by issues related to adherence.