NCT02759302

MRI on Persons With Mutations in POMT2 Gene (LGMD2N)

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 12 (actual)
• Sponsor: Rigshospitalet, Denmark · Academic / Other
• Sex: All
• Age: 18 Years – 100 Years
• Healthy volunteers: Not accepted

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

Timeline

• Start date: 2016-04-01
• Primary completion: 2017-04-01
• Completion: 2017-04-01
• First posted: 2016-05-03
• Last updated: 2017-04-11

Locations

1 site across 1 country: Denmark