Implementing a Global Expanded Access Program (EAP) for Infantile-Onset Spinal Muscular Atrophy (Type I):...

Area of Science:

• Neurology
• Genetics
• Pharmacology

Background:

• Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disorder.
• Nusinersen is the first approved disease-modifying therapy for SMA.
• Expanded access programs (EAPs) provide investigational treatments to patients lacking other options.

Purpose of the Study:

• To discuss the implementation of an EAP for nusinersen in infantile-onset SMA (SMA Type I).
• To review the successes, challenges, and future opportunities of this large-scale rare disease EAP.

Main Methods:

• The study focuses on an EAP providing nusinersen to over 800 participants with SMA Type I.
• Implementation details and outcomes of the EAP are discussed.

Main Results:

• The nusinersen EAP enrolled over 800 participants with SMA Type I by September 2018.
• The program represents one of the largest rare disease EAP initiatives.

Conclusions:

• The nusinersen EAP for SMA Type I demonstrated significant enrollment, highlighting its importance.
• Discussion of successes, challenges, and future considerations provides insights for rare disease EAP implementation.