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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Subjects with spinal muscular atrophy types 2 and 3 | Intrathecal nusinersen will be administered to all subjects per FDA approved label. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| nusinersen | Drug | Subjects will receive nusinersen and be observed with motor assessments for 24 months |
|
| 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 |
| 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 |
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Inclusion Criteria:
Exclusion Criteria:
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The population to be studied are a homogenous group of adult subjects with 5q SMA seeking treatment with nusinersen. The subjects will have a broad phenotype spectrum of motor weakness including ability to ambulate, non-ambulatory and varying degrees of upper limb motor function and respiratory and swallow abilities, with some more affected and requiring invasive ventilation or NIV, and/or PEG tubes for nutrition.
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| Name | Affiliation | Role |
|---|---|---|
| Anthony Geraci, MD | Northwell Health | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Northwell Health Neuroscience | Great Neck | New York | 11021 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 29091570 | Result | Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W, De Vivo DC; ENDEAR Study Group. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. N Engl J Med. 2017 Nov 2;377(18):1723-1732. doi: 10.1056/NEJMoa1702752. | |
| 29443664 |
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| ID | Term |
|---|---|
| D009134 | Muscular Atrophy, Spinal |
| ID | Term |
|---|---|
| D013118 | Spinal Cord Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D016472 | Motor Neuron Disease |
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| ID | Term |
|---|---|
| C000590926 | nusinersen |
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| 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 |
| Result |
| Mercuri E, Darras BT, Chiriboga CA, Day JW, Campbell C, Connolly AM, Iannaccone ST, Kirschner J, Kuntz NL, Saito K, Shieh PB, Tulinius M, Mazzone ES, Montes J, Bishop KM, Yang Q, Foster R, Gheuens S, Bennett CF, Farwell W, Schneider E, De Vivo DC, Finkel RS; CHERISH Study Group. Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy. N Engl J Med. 2018 Feb 15;378(7):625-635. doi: 10.1056/NEJMoa1710504. |
| D019636 | Neurodegenerative Diseases |
| D009468 | Neuromuscular Diseases |