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MRI and Muscle Involvement in Patients With Mutations in GMPPB

NCT02635321 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 4

Last updated 2016-04-06

No results posted yet for this study

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.

Conditions

  • Limb-girdle Muscular Dystrophy

Sponsors & Collaborators

  • Rigshospitalet, Denmark

    lead OTHER

Principal Investigators

  • Sofie T Østergaard, Bsc. · Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, Copenhagen University

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2015-11-30
Primary Completion
2016-04-30
Completion
2016-04-30

Countries

  • Denmark

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02635321 on ClinicalTrials.gov