Clinical Trial: MRI on Persons With Mutations in POMT2 Gene (LGMD2N)

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

Official Title: MRI on Persons With Mutations in POMT2 Gene (LGMD2N)

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.

Detailed Summary:
Sponsor: Rigshospitalet, Denmark

Current Primary Outcome: 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.


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • 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).


Original Secondary Outcome: Same as current

Information By: Rigshospitalet, Denmark

Dates:
Date Received: April 27, 2016
Date Started: April 2016
Date Completion:
Last Updated: April 10, 2017
Last Verified: April 2017