This trial is active, not recruiting.

Condition limb-girdle muscular dystrophy
Sponsor Rigshospitalet, Denmark
Start date April 2016
End date December 2016
Trial size 12 participants
Trial identifier NCT02759302, STO-POMT2


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.

United States No locations recruiting
Other countries No locations recruiting

Study Design

Observational model case-only
Time perspective prospective
Five patients over 18 years old with genetically verified LGMD2N

Primary Outcomes

MRI scan for qualitative analysis of muscle involvement
time frame: One MRI scan per subject (exam lasts approximately 60 min.)

Secondary Outcomes

Muscle Biopsy
time frame: One muscle biopsy per subject (last approximately 15 min.)
10 meter walk test
time frame: Exam last approximately 5 min
Neurological examination and test of muscle strength
time frame: Exam last approximately 15 min.
time frame: Data will be collected once for patients with LGMD2N (exam last approximately 45 min.)
Heart examination
time frame: Exam last approximately 45 min
Forced Vital Capacity (FVC)
time frame: Exam last approximately 15 min
Electromyography (EMG)
time frame: Exam last approximately 30 min

Eligibility Criteria

Male or female participants from 18 years up to 100 years old.

Inclusion Criteria: - Persons with genetically verified mutations in POMT2 Exclusion Criteria: - All contraindications for undergoing an MRI scan

Additional Information

Official title MRI on Persons With Mutations in POMT2 Gene (LGMD2N)
Principal investigator Sofie T. Østergaard, Bsc.
Trial information was received from ClinicalTrials.gov and was last updated in October 2016.
Information provided to ClinicalTrials.gov by Rigshospitalet, Denmark.