MRI on Persons With Mutations in POMT2 Gene (LGMD2N)
This trial is active, not recruiting.
|Condition||limb-girdle muscular dystrophy|
|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.
Five patients over 18 years old with genetically verified LGMD2N
MRI scan for qualitative analysis of muscle involvement
time frame: One MRI scan per subject (exam lasts approximately 60 min.)
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.)
time frame: Exam last approximately 45 min
Forced Vital Capacity (FVC)
time frame: Exam last approximately 15 min
time frame: Exam last approximately 30 min
Male or female participants from 18 years up to 100 years old.
- Persons with genetically verified mutations in POMT2
- All contraindications for undergoing an MRI scan
|Official title||MRI on Persons With Mutations in POMT2 Gene (LGMD2N)|
|Principal investigator||Sofie T. Østergaard, Bsc.|
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