Effect of Nusinersen on Adults With Spinal Muscular Atrophy

Completed

• Conditions: Adult Spinal Muscular Atrophy
• Interventions: Drug: nusinersen

• Registration Number: NCT03878030
• Lead Sponsor: Northwell Health

Brief Summary

Observational study of adult patients with spinal muscular atrophy types 2 and 3 receiving nusinersen

Detailed Description

Observational study to assess effects of nusinersen on motor function in adult patients with spinal muscular atrophy who are both ambulatory and non-ambulatory. Subjects will receive standard of care with nusinersen intrathecal injection and undergo baseline and every 6 month motor assessments and pulmonary function testing during the first two years of treatment with nusinersen.

Study Timeline

• Study First Submitted: 2019-03-10
• Study First Submitted QC: 2019-03-14
• Study First Posted: 2019-03-18
• Study Start: 2019-04-01
• Primary Completion: 2021-07-13
• Study Completion: 2021-07-13
• Status Verified: 2023-03
• Last Update Submitted: 2023-03-15
• Last Update Posted: 2023-03-20

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 12

Inclusion Criteria

• Genetically confirmed 5q SMA
• ability to access intrathecal space for nusinersen injection

Exclusion Criteria

• Renal impairment
• thrombocytopenia
• inability to access intrathecal space by CT or flouro guided injection

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Subjects with spinal muscular atrophy types 2 and 3	nusinersen	Intrathecal nusinersen will be administered to all subjects per FDA approved label.

Primary Outcome Measures

Name	Time	Method
Change in upper limb motor function	Two years	Change from baseline to end of study in upper limb module score
Change in 6 minute walk test in ambulatory patients	Two years	Change in 6 minute walk test from baseline to end of study
Change in quantitative motor function	Two years	Primary Endpoint: Change from baseline to end of study in quantitative motor strength by dynamometry of upper limb muscles - shoulder abduction and elbow flexion/extension.

Secondary Outcome Measures

Name	Time	Method
Change in compound muscle action potential (CMAP) amplitude by nerve conduction velocity (NCV) criteria	Two years	Change from baseline to end of study in CMAP amplitude of responses from median, ulnar and peroneal motor nerves
Change in pulmonary function by spirometry forced expiratory volume (FEV)	Two years	Change from baseline to end of study in FEV
Change in pulmonary function by spirometry forced vital capacity (FVC)	Two years	Change in FVC from baseline to end of study
Change in 10 meter walk test in ambulatory patients	Two years	Change from baseline to end of study in the 10 meter walk test

Trial Locations

Locations (1)

Northwell Health Neuroscience; 🇺🇸 Great Neck, New York, United States