Effect of Nusinersen on Adults With Spinal Muscular Atrophy

Study Overview
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Brief Summary
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Observational study of adult patients with spinal muscular atrophy types 2 and 3 receiving nusinersen

Detailed Description
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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.

Official Title
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Effect of Nusinersen on Motor Function in Adult Patients With Spinal Muscular Atrophy Types 2 and 3

Conditions
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Adult Spinal Muscular Atrophy

Intervention / Treatment
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* Drug: nusinersen


Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 60 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Subjects with spinal muscular atrophy types 2 and 3<br>Intrathecal nusinersen will be administered to all subjects per FDA approved label. | Drug: nusinersen<br>* Subjects will receive nusinersen and be observed with motor assessments for 24 months<br>* Other names: Spinraza;|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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. | Two years | 
| Change in upper limb motor function | Change from baseline to end of study in upper limb module score | Two years | 
| Change in 6 minute walk test in ambulatory patients | Change in 6 minute walk test from baseline to end of study | Two years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Change in pulmonary function by spirometry forced vital capacity (FVC) | Change in FVC from baseline to end of study | Two years | 
| Change in 10 meter walk test in ambulatory patients | Change from baseline to end of study in the 10 meter walk test | 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 | Two years | 
| Change in pulmonary function by spirometry forced expiratory volume (FEV) | Change from baseline to end of study in FEV | Two years |