Best Practices in SMA.

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Presentation transcript:

Best Practices in SMA

This program will include a discussion of investigational agents not approved by the FDA for use in the United States and data that were presented in abstract form. These data should be considered preliminary until published in a peer-reviewed journal.

Overview of SMA

Clinical Characteristics of SMA

Validated Outcome Measures in SMA

Genetic Basis of SMA

SMN2 Copy Number Is a Primary Determinant of Disease Severity

Current and Investigational Targeted Therapies for SMA

Nusinersen

ENDEAR: Study Design

ENDEAR: Endpoints

ENDEAR: Event-Free and Overall Survival

ENDEAR: HINE-2 Responses

ENDEAR: CHOP-INTEND Results

ENDEAR: Safety

Nusinersen in SMA: Early-Phase Studies

CHERISH: Study Design

CHERISH: Results

CHERISH: Results (cont)

NURTURE: Study Design and Results

HINE Motor Milestone Scores Across Studies

Newborn Screening for SMA in the United States

Early Diagnosis and Interventions in SMA

SMN-Targeting Agents in the Pipeline

AVXS-101: Gene Replacement Therapy

AVXS-101: Motor Function Results

AVXS-101: Motor Response in High-Dose Group

Risdiplam: SMN2 Splicing Modifier

Reldesemtiv: Troponin Activator

SRK-015: Myostatin Inhibitor

Moving New Research Into the Clinic

Looking Ahead: Open Research Issues

Abbreviations