Expert Perspectives on Best Practices for Diagnosis and Management of Spinal Muscular Atrophy
This program will include a discussion of investigational agents not approved by the FDA for use in the US and data that were presented in abstract form. These data should be considered preliminary until published in a peer-reviewed journal.
Introduction to SMA
Spectrum of SMA Severity
Videos of Children With SMA
Suspect SMA? Order Genetic Testing
Genetics of SMA: Chromosome 5q13
SMN2 Gene Makes Small Amount of Protein
Number of SMN2 Copies Affects SMA Severity
Genetic Testing for SMA
Pathophysiology of SMA
Multidisciplinary Care of Patients With SMA
Mechanisms of Action of SMA Therapies
Phase 1 Trial of AVXS-101
Motor Response in High-Dose Group
Further Trials of AVXS-101
Other Investigational Agents for SMA
Principal Clinical Trials of Nusinersen
Nusinersen: ENDEAR Design
Nusinersen: ENDEAR Results
Nusinersen: NURTURE Interim Results
Newborn Screening for SMA
Other Changes Ahead in SMA Management
Summary
Abbreviations