Implementing a Global Expanded Access Program (EAP) for Infantile-Onset Spinal Muscular Atrophy (Type I): Understanding the Imperative, Impact and Challenges.

Jonathan Yong,Sam Lucas,Megan Moffett

doi:10.3233/jnd-190387

Jonathan Yong, Sam Lucas + Show 1 more

Open Access

https://doi.org/10.3233/jnd-190387

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Journal: Journal of Neuromuscular Diseases	Publication Date: May 21, 2019
Citations: 8	License type: CC BY 4.0

Affiliation: Biogen (United States)

Abstract

Nusinersen is the first disease-modifying therapy approved for the treatment of spinal muscular atrophy (SMA), a rare genetic disorder characterized by severe progressive muscular atrophy and weakness. An expanded access program (EAP) provides investigational treatment to patients without other treatment options. An EAP providing nusinersen treatment to individuals with the most severe form of SMA, infantile-onset SMA (consistent with SMA Type I), has enrolled over 800 participants as of September 2018, making it one of the largest in rare disease history. The successes, challenges experienced and opportunities for future consideration during the implementation of the nusinersen EAP are discussed.

Highlights

Spinal muscular atrophy (SMA) is caused by mutations/deletions in the survival motor neuron 1 (SMN1) gene, resulting in decreased SMN protein expression and degeneration of spinal cord and brainstem alpha motor neurons [1]
The sponsor launched an expanded access program (EAP) in September 2016 providing nusinersen to eligible individuals with infantile-onset SMA who had not previously participated and were not eligible to participate in nusinersen investigational studies (NCT02865109)
The nusinersen EAP and clinical study program allowed over 1,150 individuals across a spectrum of SMA types and ages to receive nusinersen before commercial availability, often significantly earlier than the commercial availability of nusinersen in their region

Summary

Introduction

Spinal muscular atrophy (SMA) is caused by mutations/deletions in the survival motor neuron 1 (SMN1) gene, resulting in decreased SMN protein expression and degeneration of spinal cord and brainstem alpha motor neurons [1]. The sponsor launched an expanded access program (EAP) in September 2016 providing nusinersen to eligible individuals with infantile-onset SMA (consistent with SMA Type I) who had not previously participated and were not eligible to participate in nusinersen investigational studies (NCT02865109). An EAP is a non-promoted, optional program that provides eligible patients with access to an investigational treatment, before regulatory approval and commercial availability [14, 15].

Results

Conclusion