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