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.

Completed

• Conditions: Healthy Volunteer, Muscular Atrophy, Spinal

• Registration Number: NCT02044029
• Lead Sponsor: Hoffmann-La Roche

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2014-01
• Study First Submitted: 2014-01-16
• Study First Submitted QC: 2014-01-21
• Study First Posted: 2014-01-23
• Primary Completion: 2015-07
• Study Completion: 2015-07
• Status Verified: 2016-11
• Last Update Submitted: 2016-11-01
• Last Update Posted: 2016-11-02

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 38

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

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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.

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Disease progression, assessed through the Motor Function Measure test	At baseline, Week 12 and Week 24
Differences in quantitative muscle MRI based on fat content and T2 values	At baseline, Week 12 and Week 24

Secondary Outcome Measures

Name	Time	Method
Levels of SMN proteins	At baseline and Week 24
Levels of Survival of Motor Neuron (SMN) RNA	At baseline and Week 24
Disease progression, assessed with the 6-minute Walk Test.	At baseline, Week 12 and Week 24