MRI on Persons With Mutations in POMT2 Gene (LGMD2N)
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|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).
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
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|