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MRI and Muscle Involvement in Patients With Mutations in GMPPB

This study has been completed.
Information provided by (Responsible Party):
Sofie Thurø Østergaard, Rigshospitalet, Denmark Identifier:
First received: December 1, 2015
Last updated: April 5, 2016
Last verified: April 2016

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.

Limb-girdle Muscular Dystrophy

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Cross-Sectional
Official Title: MRI and Muscle Involvement in Patients With Mutations in GMPPB

Resource links provided by NLM:

Further study details as provided by Sofie Thurø Østergaard, Rigshospitalet, Denmark:

Primary Outcome Measures:
  • 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:
  • 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).

  • 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 based on the Medical Research Council (MRC) scale.

  • 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).

  • 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.

Enrollment: 4
Study Start Date: November 2015
Study Completion Date: April 2016
Primary Completion Date: April 2016 (Final data collection date for primary outcome measure)
Patients with LGMD 2T
Four patients over 18 years old with genetically verified LGMD 2T.


Ages Eligible for Study:   18 Years and older   (Adult, Senior)
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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: 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
  More Information

Responsible Party: Sofie Thurø Østergaard, Bachelor of Science, Rigshospitalet, Denmark Identifier: NCT02635321     History of Changes
Other Study ID Numbers: STO-GMPPB
Study First Received: December 1, 2015
Last Updated: April 5, 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 processed this record on September 19, 2017