MRI on Persons With Mutations in POMT2 Gene (LGMD2N)

Status Completed

Clinical Trial 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.

Clinical Trial Description

n/a

Study Design

Related Conditions & MeSH terms

Clinical Trial Details

NCT number	NCT02759302
Study type	Observational
Source	Rigshospitalet, Denmark
Contact
Status	Completed
Phase	N/A
Start date	April 2016
Completion date	April 2017

View Details

See also
Status	Clinical Trial	Phase
Recruiting	`NCT01403402` - Congenital Muscle Disease Study of Patient and Family Reported Medical Information
Terminated	`NCT03783923` - A Study of Deflazacort (Emflaza®) in Participants With Limb-Girdle Muscular Dystrophy 2I (LGMD2I)	Phase 3
Completed	`NCT02635321` - MRI and Muscle Involvement in Patients With Mutations in GMPPB	N/A
Completed	`NCT00873782` - Safety Study of Transvenous Limb Perfusion in Human Muscular Dystrophy	Phase 1
Completed	`NCT00457912` - Genetic Characterization of Individuals With Limb Girdle Muscular Dystrophy	N/A
Completed	`NCT04054375` - Weekly Steroids in Muscular Dystrophy	Phase 2
Recruiting	`NCT00390104` - Molecular Analysis of Patients With Neuromuscular Disease
Recruiting	`NCT06246513` - A Trial to Learn More About an Experimental Gene Therapy Called Bidridistrogene Xeboparvovec (SRP-9003) as a Possible Treatment for Limb Girdle Muscular Dystrophy 2E/R4 (EMERGENE)	Phase 3
Completed	`NCT00104078` - Study Evaluating MYO-029 in Adult Muscular Dystrophy	Phase 1/Phase 2
Recruiting	`NCT04475926` - A Study of the Natural History of Participants With LGMD2E/R4, LGMD2D/R3, LGMD2C/R5, and LGMD2A/R1 ≥ 4 Years of Age, Who Are Managed in Routine Clinical Practice