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This non-drug, single center, 24-week, longitudinal study in ambulant spinal muscular atrophy (SMA) patients and in age- and gender-matched healthy volunteers will assess the detection of disease progression by magnetic resonance imaging (MRI) and the Muscle Function Measure (MFM) test.
Each participant will be evaluated in three testing sessions: at baseline, at Week 12 and at Week 24. Both patients and volunteers will undergo MRI scans. Patients will additionally undergo testing of motor function and have blood samples taken for Survival of the Motor Neuron (SMN) genes, proteins and mRNA analysis.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Age- and gender-matched controls | |||
| Patients with spinal muscular atrophy |
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| Measure | Description | Time Frame |
|---|---|---|
| Differences in quantitative muscle MRI based on fat content and T2 values | At baseline, Week 12 and Week 24 | |
| Disease progression, assessed through the Motor Function Measure test | At baseline, Week 12 and Week 24 |
| Measure | Description | Time Frame |
|---|---|---|
| Disease progression, assessed with the 6-minute Walk Test. | At baseline, Week 12 and Week 24 | |
| Levels of Survival of Motor Neuron (SMN) RNA | At baseline and Week 24 | |
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Inclusion Criteria:
Exclusion Criteria:
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Ambulant patients with spinal muscular atrophy (SMA) and age- and gender-matched healthy volunteers.
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| Name | Affiliation | Role |
|---|---|---|
| Clinical Trials | Hoffmann-La Roche | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Basel | 4005 | Switzerland |
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Whole blood samples taken at screening and at week 24 from patients with spinal muscular atrophy (SMA).
| Levels of SMN proteins |
| At baseline and Week 24 |
| ID | Term |
|---|---|
| D009133 | Muscular Atrophy |
| ID | Term |
|---|---|
| D020879 | Neuromuscular Manifestations |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
| D001284 | Atrophy |
| D020763 | Pathological Conditions, Anatomical |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D012816 | Signs and Symptoms |
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