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MRI on Persons With Mutations in POMT2 Gene (LGMD2N)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02759302
Recruitment Status : Completed
First Posted : May 3, 2016
Last Update Posted : April 11, 2017
Information provided by (Responsible Party):
Sofie Thurø Østergaard, Rigshospitalet, Denmark

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
Limb-girdle Muscular Dystrophy

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Study Type : Observational
Actual Enrollment : 12 participants
Observational Model: Case-Only
Time Perspective: Prospective
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

Primary Outcome Measures :
  1. 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.

Secondary Outcome Measures :
  1. 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).

  2. 10 meter walk test [ Time Frame: Exam last approximately 5 min ]
    Measurement of the time it takes to walk 10 meters.

  3. 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).

  4. 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)

  5. Heart examination [ Time Frame: Exam last approximately 45 min ]
    Echocardiography and Electrocardiogram (ECG).

  6. 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.

  7. Electromyography (EMG) [ Time Frame: Exam last approximately 30 min ]
    EMG is used for measuring nerve conducting velocity and neuromuscular activity with repetitive stimulation (3Hz).

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 100 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Persons diagnosed with LGMD2N in Denmark and France are invited to the study.

Inclusion Criteria:

  • Persons with genetically verified mutations in POMT2

Exclusion Criteria:

  • All contraindications for undergoing an MRI scan

Information from the National Library of Medicine

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 identifier (NCT number): NCT02759302

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Copenhagen Neuromuscular Center, Rigshospitalet
Copenhagen, Denmark, DK-2100
Sponsors and Collaborators
Rigshospitalet, Denmark
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Principal Investigator: Sofie T. Østergaard, Bsc. Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, Copenhagen University
Publications automatically indexed to this study by Identifier (NCT Number):
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Responsible Party: Sofie Thurø Østergaard, Scholarship student, Rigshospitalet, Denmark Identifier: NCT02759302    
Other Study ID Numbers: STO-POMT2
First Posted: May 3, 2016    Key Record Dates
Last Update Posted: April 11, 2017
Last Verified: April 2017
Keywords provided by Sofie Thurø Østergaard, Rigshospitalet, Denmark:
Additional relevant MeSH terms:
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Muscular Dystrophies
Muscular Dystrophies, Limb-Girdle
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn