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.

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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT02044029

Enrollment

Registered

2014-01-23

Start date

2014-01-31

Completion date

2015-07-31

Last updated

2016-11-02

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Healthy Volunteer, Muscular Atrophy, Spinal

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.

Interventions

None listed

Study design

Observational model

CASE_CONTROL

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

10 Years to No maximum

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.

Design outcomes

Primary

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

Secondary

Measure	Time frame
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
Levels of SMN proteins	At baseline and Week 24

Countries

Switzerland

Outcome results