CHEST 2023 On Demand Pass-Treatment of Cystic Fibrosis in the Age of CFTR Modulators

Video Transcription

Video Summary

The video transcript discusses the treatment of cystic fibrosis (CF) in the age of CFTR modulators. CF is an autosomal recessive disorder caused by mutations in the CFTR gene, which affects the functioning of the CFTR protein. CFTR modulators are a transformative treatment for CF, as they target the underlying cause of the disease. The most common mutation in CF is the F508 deletion, and CFTR modulator therapy has been developed specifically for patients with this mutation. The therapy works by either potentiating the effects of CFTR or correcting the protein's synthesis and trafficking. The first CFTR modulator, ivacaftor, was found to have significant positive effects on patients with the G551D mutation. Later studies looked at the impact of lumacaftor/ivacaftor and tezacaftor/ivacaftor on patients with the F508 deletion mutation, which accounts for the majority of CF cases. These studies resulted in significant improvements in pulmonary function, reduction in exacerbations, and improved symptoms and quality of life for patients. CFTR modulator therapy has also been shown to have positive effects on extra-pulmonary symptoms of CF, such as sinus disease, gastrointestinal issues, bone density, and fertility. However, not all CF patients are eligible for CFTR modulators, and there are still challenges and adverse effects associated with the therapy. These include hepatic toxicity, mental health impacts, gastrointestinal side effects, and issues with tolerability and access to treatment. Ongoing research and development is focused on finding alternative approaches and therapies to target CF in individuals who cannot benefit from CFTR modulators. Overall, CFTR modulator therapy has been transformative in the treatment of CF, significantly extending the median age of survival for CF patients. However, ongoing research and improvements are still needed to address the challenges and ensure that all CF patients can benefit from this treatment.

Meta Tag

Category Allergy and Airway

Session ID 2015

Speaker Leah Cohen

Speaker Theodore Liou

Speaker Christina Mingora

Track Bronchiectasis and Cystic Fibrosis

Keywords

Cystic fibrosis

CFTR modulators

CFTR gene

Autosomal recessive disorder

F508 deletion

Ivacaftor

Lumacaftor/ivacaftor

Tezacaftor/ivacaftor

Pulmonary function

Extra-pulmonary symptoms

CF