MRI and Muscle Involvement in Patients With Mutations in GMPPB

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: NCT02635321
Recruitment Status : Completed
First Posted : December 18, 2015
Last Update Posted : April 6, 2016
Information provided by (Responsible Party):
Sofie Thurø Østergaard, Rigshospitalet, Denmark

Brief Summary:

Limb girdle muscular dystrophies (LGMD) are a very heterogeneous group of muscle disorders 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.

A new type - type 2T has been found. The genetic cause of type 2T is mutations in Guanosine Diphosphate (GDP)-mannose pyrophosphorylase B (GMPPB). Mutations in GMPPB can also cause Congenital muscular dystrophies (CMD). Only 41 patients with mutations in GMPPB 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

Study Type : Observational
Actual Enrollment : 4 participants
Observational Model: Case-Only
Time Perspective: Cross-Sectional
Official Title: MRI and Muscle Involvement in Patients With Mutations in GMPPB
Study Start Date : November 2015
Actual Primary Completion Date : April 2016
Actual Study Completion Date : April 2016

Patients with LGMD 2T
Four patients over 18 years old with genetically verified LGMD 2T.

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 developed by Mercuri et al. (2007).

Secondary Outcome Measures :
  1. Muscle biopsy for biochemical investigation [ Time Frame: One muscle biopsy per subject (last approximately 15 min.) ]
    Muscle biopsies from the tibialis anterior muscle and the deltoid muscle will be analyzed for glycosylated α-dystroglycan, merosin and GMPPB. (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 based on the Medical Research Council (MRC) scale.

  4. Questionnaires [ Time Frame: Data will be collected once for patients with LGMD 2T (exam last approximately 45 min.) ]
    Data will be collected using Minimal mental examination (MMSE) and Fatigue Severity Scale (FSS).

  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.

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

Inclusion Criteria:

  • Persons with genetically verified mutations in GMPPB

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): NCT02635321

Copenhagen Neuromuscular Center
Copenhagen, Denmark, 2100
Sponsors and Collaborators
Rigshospitalet, Denmark
Principal Investigator: Sofie T Østergaard, Bsc. Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, Copenhagen University

Responsible Party: Sofie Thurø Østergaard, Bachelor of Science, Rigshospitalet, Denmark Identifier: NCT02635321     History of Changes
Other Study ID Numbers: STO-GMPPB
First Posted: December 18, 2015    Key Record Dates
Last Update Posted: April 6, 2016
Last Verified: April 2016

Keywords provided by Sofie Thurø Østergaard, Rigshospitalet, Denmark:

Additional relevant MeSH terms:
Muscular Dystrophies
Muscular Dystrophies, Limb-Girdle
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn