MRI on Persons With Mutations in POMT2 Gene (LGMD2N)

Completed

• Conditions: Limb-girdle Muscular Dystrophy

• Registration Number: NCT02759302
• Lead Sponsor: Rigshospitalet, Denmark

Brief 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.

Detailed Description

Not available

Study Timeline

• Study Start: 2016-04
• Study First Submitted: 2016-04-27
• Study First Submitted QC: 2016-04-29
• Study First Posted: 2016-05-03
• Status Verified: 2017-04
• Primary Completion: 2017-04
• Study Completion: 2017-04
• Last Update Submitted: 2017-04-10
• Last Update Posted: 2017-04-11

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 12

Inclusion Criteria

• Persons with genetically verified mutations in POMT2

Exclusion Criteria

• All contraindications for undergoing an MRI scan

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
MRI scan for qualitative analysis of muscle involvement	One MRI scan per subject (exam lasts approximately 60 min.)	The MRI protocol include T1-weighted brain and whole body examination. Four cross-sectional slices at shoulder, lumbar back, thigh and calf are chosen for qualitative analysis using the grading scale from 1 to 4 developed by Mercuri et al. (2007) to evaluate the involvement of muscles by looking at the fat infiltration.

Secondary Outcome Measures

Name	Time	Method
Muscle Biopsy	One muscle biopsy per subject (last approximately 15 min.)	One muscle biopsy from each patient from the tibialis anterior muscle or the deltoid muscle will be analyzed for glycosylated α-dystroglycan, merosin and POMT2. (Concentration determined by standard biochemical analysis).
Heart examination	Exam last approximately 45 min	Echocardiography and Electrocardiogram (ECG).
Electromyography (EMG)	Exam last approximately 30 min	EMG is used for measuring nerve conducting velocity and neuromuscular activity with repetitive stimulation (3Hz).
10 meter walk test	Exam last approximately 5 min	Measurement of the time it takes to walk 10 meters.
Questionnaires	Data will be collected once for patients with LGMD2N (exam last approximately 45 min.)	Data will be collected using Minimal mental examination (MMSE)
Neurological examination and test of muscle strength	Exam last approximately 15 min.	Muscle strength (in arms and legs) will be examined by the principal investigator based on the Medical Research Council (MRC) scale with values spanning from 5(=normal strength) to 1(=No contraction).
Forced Vital Capacity (FVC)	Exam last approximately 15 min	FVC is measured as the best of three attempts using a hand-held spirometer.

Trial Locations

Locations (1)

Copenhagen Neuromuscular Center, Rigshospitalet; 🇩🇰 Copenhagen, Denmark