Self-Assessment: Add-on Therapy for SMA | Navigating Through the Available Therapies for Duchenne: How Do You Choose?-Navigating Through the Available Therapies for Duchenne: How Do You Choose?: Session recording

Video Transcription

Video Summary

The session began with introductions from Catherine Mosier, a pediatric physiatrist, announcing presentations on current therapies for Duchenne Muscular Dystrophy (DMD). The discussion highlighted advancements since eight years ago when only a few treatments existed. Nancy Kuntz from Lurie Children's Hospital kicked off the presentation by providing an overview of Duchenne and changes in therapy. Key points included the importance of early diagnosis and treatment, the role of corticosteroids in prolonging ambulation and survival, and the use of natural history studies to develop treatment plans.<br /><br />Emerging therapies like exon skipping and gene therapy were also discussed, emphasizing the need for mutation-specific treatments. About 15% of DMD patients may benefit from exon skipping, with therapies available for certain exon mutations. Gene replacement therapy involves using viral vectors to deliver mini-dystrophin genes. Challenges in therapy include existing immune responses to viral vectors and managing multi-organ side effects.<br /><br />Craig Zaidman continued with a focus on the ongoing challenges and complexities in adopting new therapies, stressing both potential benefits and side effects. Discussions touched on different treatments' effectiveness, exemplified by case studies and clinical data. The meeting wrapped up with a Q&A session addressing practical concerns related to therapy implementation, underlining the clinical community's grappling with these promising yet complex therapies. Overall, the session underscored the evolving landscape of DMD treatment, highlighting both breakthroughs and ongoing challenges.

Keywords

Duchenne Muscular Dystrophy

pediatric physiatrist

current therapies

early diagnosis

corticosteroids

exon skipping

gene therapy

mutation-specific treatments

viral vectors

mini-dystrophin genes

immune responses

therapy side effects

clinical data