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Completed

NCT Number: NCT02759302

MRI on Persons With Mutations in POMT2 Gene (LGMD2N)

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.

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Key information

Conditions

Limb-girdle Muscular Dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Muscular Diseases Muscular Disorders, Atrophic Muscular Dystrophies Muscular Dystrophies, Limb-Girdle Musculoskeletal Diseases Nervous System Diseases Neuromuscular Diseases

Age range

18 year–100 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Copenhagen Neuromuscular Center, Rigshospitalet

Copenhagen, DK-2100, Denmark

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Persons with genetically verified mutations in POMT2

Exclusion criteria

  • All contraindications for undergoing an MRI scan

Treatment and study plan

Primary outcomes

  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 outcomes

  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).

Sponsors and collaborators

Lead sponsor

Rigshospitalet, Denmark

Other

Registry information

Important dates

Study start
2016
Primary completion
2017
Study completion
2017
First posted
May 3, 2016
Registry last updated
Apr 11, 2017

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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