Effect of Nusinersen on Adults With Spinal Muscular Atrophy

Northwell Health12 enrolled

Overview

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

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 Type

OBSERVATIONAL

Enrollment

Conditions

Adult Spinal Muscular Atrophy

Interventions

nusinersenDRUG

Subjects will receive nusinersen and be observed with motor assessments for 24 months

Eligibility

Sex: ALLMin age: 18 YearsMax age: 60 Years

Medical Language ↔ Plain English

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

Locations (1)

Northwell Health Neuroscience

Great Neck, New York, United States

Outcomes

Primary Outcomes

Change in quantitative motor function

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.

Time frame: Two years

Change in upper limb motor function

Change from baseline to end of study in upper limb module score

Time frame: Two years

Change in 6 minute walk test in ambulatory patients

Change in 6 minute walk test from baseline to end of study

Time frame: Two years

Secondary Outcomes

Change in pulmonary function by spirometry forced vital capacity (FVC)

Change in FVC from baseline to end of study

Time frame: Two years

Change in 10 meter walk test in ambulatory patients

Change from baseline to end of study in the 10 meter walk test

Time frame: Two years

Change in compound muscle action potential (CMAP) amplitude by nerve conduction velocity (NCV) criteria

Change from baseline to end of study in CMAP amplitude of responses from median, ulnar and peroneal motor nerves

Time frame: Two years

Change in pulmonary function by spirometry forced expiratory volume (FEV)

Change from baseline to end of study in FEV

Time frame: Two years

Data from ClinicalTrials.gov

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