MRI on Persons With Mutations in POMT2 Gene (LGMD2N)
|ClinicalTrials.gov Identifier: NCT02759302|
Recruitment Status : Completed
First Posted : May 3, 2016
Last Update Posted : April 11, 2017
|Condition or disease|
|Limb-girdle Muscular Dystrophy|
|Study Type :||Observational|
|Actual Enrollment :||12 participants|
|Official Title:||MRI on Persons With Mutations in POMT2 Gene (LGMD2N)|
|Study Start Date :||April 2016|
|Actual Primary Completion Date :||April 2017|
|Actual Study Completion Date :||April 2017|
Patients with LGMD2N
Five patients over 18 years old with genetically verified LGMD2N
- MRI scan for qualitative analysis of muscle involvement [ Time Frame: One MRI scan per subject (exam lasts approximately 60 min.) ]The MRI protocol include T1-weighted brain and whole body examination. Four cross-sectional slices at shoulder, lumbar back, thigh and calf are chosen for qualitative analysis using the grading scale from 1 to 4 developed by Mercuri et al. (2007) to evaluate the involvement of muscles by looking at the fat infiltration.
- Muscle Biopsy [ Time Frame: One muscle biopsy per subject (last approximately 15 min.) ]One muscle biopsy from each patient from the tibialis anterior muscle or the deltoid muscle will be analyzed for glycosylated α-dystroglycan, merosin and POMT2. (Concentration determined by standard biochemical analysis).
- 10 meter walk test [ Time Frame: Exam last approximately 5 min ]Measurement of the time it takes to walk 10 meters.
- Neurological examination and test of muscle strength [ Time Frame: Exam last approximately 15 min. ]Muscle strength (in arms and legs) will be examined by the principal investigator based on the Medical Research Council (MRC) scale with values spanning from 5(=normal strength) to 1(=No contraction).
- Questionnaires [ Time Frame: Data will be collected once for patients with LGMD2N (exam last approximately 45 min.) ]Data will be collected using Minimal mental examination (MMSE)
- Heart examination [ Time Frame: Exam last approximately 45 min ]Echocardiography and Electrocardiogram (ECG).
- Forced Vital Capacity (FVC) [ Time Frame: Exam last approximately 15 min ]FVC is measured as the best of three attempts using a hand-held spirometer.
- Electromyography (EMG) [ Time Frame: Exam last approximately 30 min ]EMG is used for measuring nerve conducting velocity and neuromuscular activity with repetitive stimulation (3Hz).
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02759302
|Copenhagen Neuromuscular Center, Rigshospitalet|
|Copenhagen, Denmark, DK-2100|
|Principal Investigator:||Sofie T. Østergaard, Bsc.||Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, Copenhagen University|