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.
Primary Outcome Measures:
- Differences in quantitative muscle MRI based on fat content and T2 values [ Time Frame: At baseline, Week 12 and Week 24 ]
- Disease progression, assessed through the Motor Function Measure test [ Time Frame: At baseline, Week 12 and Week 24 ]
Biospecimen Retention: Samples With DNA
Secondary Outcome Measures:
- Disease progression, assessed with the 6-minute Walk Test. [ Time Frame: At baseline, Week 12 and Week 24 ]
- Levels of Survival of Motor Neuron (SMN) RNA [ Time Frame: At baseline and Week 24 ]
- Levels of SMN proteins [ Time Frame: At baseline and Week 24 ]
Whole blood samples taken at screening and at week 24 from patients with spinal muscular atrophy (SMA).
| Study Start Date:
| Study Completion Date:
| Primary Completion Date:
||July 2015 (Final data collection date for primary outcome measure)
Age- and gender-matched controls
Patients with spinal muscular atrophy