Healthy Volunteer, Muscular Atrophy, Spinal Clinical Trial
Official title:
A SINGLE CENTER, LONGITUDINAL, NON-DRUG STUDY TO ASSESS THE ABILITY OF MUSCLE IMAGING AND OF MOTOR FUNCTION MEASURE (MFM) TO DETECT CHANGES IN DISEASE PROGRESSION IN AMBULANT SPINAL MUSCULAR ATROPHY (SMA) PATIENTS AS COMPARED TO AGE-MATCHED HEALTHY CONTROLS
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.
n/a
Observational Model: Case Control, Time Perspective: Prospective