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
Trial Snapshot
- Phase
- Not Applicable
- Status
- Completed
- Sponsor
- Hoffmann-La Roche
- Enrollment
- 38
- Primary Endpoint
- Disease progression, assessed through the Motor Function Measure test
Study Overview
Brief Summary
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 Design
- Study Type
- Observational
- Observational Model
- Case Control
- Time Perspective
- Prospective
Eligibility Criteria
- Ages
- 10 Years to — (Child, Adult, Older Adult)
- Sex
- All
- Accepts Healthy Volunteers
- Yes
Inclusion Criteria
- •Male and female subjects, aged >/= 10 years at screening
- •For SMA patients: Confirmed clinical diagnosis of 5q-autosomal recessive SMA, ambulant at time of screening, and prefereably without spinal cord fixation
Exclusion Criteria
- •Previous (3 months or less) or concomitant participation in any other therapeutic trial
- •Known or suspected cancer
- •Other chronic disease or inadequate renal, liver, or heart function
- •Contraindications for MRI scans, including but not limited to: claustrophobia, pacemaker, artifical heart valves, cochlear implants, presence of foreign metal objects in the body, intracranial vascular clips, etc. Any contraindications to MRI found on a standard radiography scan.
Outcomes
Primary Outcomes
Disease progression, assessed through the Motor Function Measure test
Time Frame: At baseline, Week 12 and Week 24
Differences in quantitative muscle MRI based on fat content and T2 values
Time Frame: At baseline, Week 12 and Week 24
Secondary Outcomes
- Levels of SMN proteins(At baseline and Week 24)
- 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)