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.
Study Type
OBSERVATIONAL
Enrollment
38
Unnamed facility
Basel, Switzerland
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
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
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