Ability of Muscle Imaging and Motor Function Measure (MFM) to Detect Changes in Disease Progression in Ambulant Spinal Muscular Atrophy Patients Compared to Healthy Volunteers.
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.
Healthy Volunteer, Muscular Atrophy, Spinal
|Study Design:||Observational Model: Case Control
Time Perspective: Prospective
|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|
- Differences in quantitative muscle MRI based on fat content and T2 values [ Time Frame: At baseline, Week 12 and Week 24 ] [ Designated as safety issue: No ]
- Disease progression, assessed through the Motor Function Measure test [ Time Frame: At baseline, Week 12 and Week 24 ] [ Designated as safety issue: No ]
- Disease progression, assessed with the 6-minute Walk Test. [ Time Frame: At baseline, Week 12 and Week 24 ] [ Designated as safety issue: No ]
- Levels of Survival of Motor Neuron (SMN) RNA [ Time Frame: At baseline and Week 24 ] [ Designated as safety issue: No ]
- Levels of SMN proteins [ Time Frame: At baseline and Week 24 ] [ Designated as safety issue: No ]
Biospecimen Retention: Samples With DNA
Whole blood samples taken at screening and at week 24 from patients with spinal muscular atrophy (SMA).
|Study Start Date:||January 2014|
|Study Completion Date:||July 2015|
|Primary Completion Date:||July 2015 (Final data collection date for primary outcome measure)|
|Age- and gender-matched controls|
|Patients with spinal muscular atrophy|
Please refer to this study by its ClinicalTrials.gov identifier: NCT02044029
|Basel, Switzerland, 4005|
|Study Director:||Clinical Trials||Hoffmann-La Roche|