MRI on Persons With Mutations in POMT2 Gene (LGMD2N)
Study Details
Study Description
Brief Summary
POMT2 mutation is known to cause Walker Warburg Syndrome and Muscle-Brain-Eye syndrome. Recently it has been connected to limb girdle muscular dystrophy (LGMD), a disorder characterized by muscle weakness and atrophy of the proximal muscles of the shoulder and pelvic girdles. LGMD is classified based on its inheritance pattern and genetic cause into more than 31 different types. LGMD with POMT2 mutations is a new phenotype - type 2N. Very few patients with the LGMD2N phenotype has been reported. In this study, the investigators examine five new cases with the LGMD phenotype. The primary aim is to examine the muscle involvement using MRI.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
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Study Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| Patients with LGMD2N Five patients over 18 years old with genetically verified LGMD2N |
Outcome Measures
Primary Outcome Measures
- MRI scan for qualitative analysis of muscle involvement [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.
Secondary Outcome Measures
- Muscle Biopsy [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 [Exam last approximately 5 min]
Measurement of the time it takes to walk 10 meters.
- Neurological examination and test of muscle strength [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 [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 [Exam last approximately 45 min]
Echocardiography and Electrocardiogram (ECG).
- Forced Vital Capacity (FVC) [Exam last approximately 15 min]
FVC is measured as the best of three attempts using a hand-held spirometer.
- Electromyography (EMG) [Exam last approximately 30 min]
EMG is used for measuring nerve conducting velocity and neuromuscular activity with repetitive stimulation (3Hz).
Eligibility Criteria
Criteria
Inclusion Criteria:
- Persons with genetically verified mutations in POMT2
Exclusion Criteria:
- All contraindications for undergoing an MRI scan
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | Copenhagen Neuromuscular Center, Rigshospitalet | Copenhagen | Denmark | DK-2100 |
Sponsors and Collaborators
- Rigshospitalet, Denmark
Investigators
- Principal Investigator: Sofie T. Østergaard, Bsc., Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, Copenhagen University
Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- STO-POMT2