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MRI on Persons With Mutations in POMT2 Gene (LGMD2N)

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Rigshospitalet

Status

Completed

Conditions

Limb-girdle Muscular Dystrophy

Study type

Observational

Funder types

Other

Identifiers

NCT02759302
STO-POMT2

Details and patient eligibility

About

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.

Enrollment

12 patients

Sex

All

Ages

18 to 100 years old

Volunteers

No Healthy Volunteers

Inclusion criteria

  • Persons with genetically verified mutations in POMT2

Exclusion criteria

  • All contraindications for undergoing an MRI scan

Trial design

12 participants in 1 patient group

Patients with LGMD2N
Description:
Five patients over 18 years old with genetically verified LGMD2N

Trial contacts and locations

1

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Data sourced from clinicaltrials.gov

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