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MRI on Persons With Mutations in POMT2 Gene (LGMD2N)

NCT02759302 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 12

Last updated 2017-04-11

No results posted yet for this study

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.

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
Max Age
100 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2016-04-30
Primary Completion
2017-04-30
Completion
2017-04-30

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 NCT02759302 on ClinicalTrials.gov