MRI on Persons With Mutations in POMT2 Gene (LGMD2N)

Limb-girdle Muscular Dystrophy Clinical Trial

Official title:

MRI on Persons With Mutations in POMT2 Gene (LGMD2N)

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02759302
• Other study ID #: STO-POMT2
• Status: Completed
• Phase: N/A
• First received: April 27, 2016
• Last updated: April 10, 2017
• Start date: April 2016
• Est. completion date: April 2017

Study information

• Verified date: April 2017
• Source: Rigshospitalet, Denmark
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 12
• Est. completion date: April 2017
• Est. primary completion date: April 2017
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years to 100 Years

Eligibility

Inclusion Criteria:

• Persons with genetically verified mutations in POMT2

Exclusion Criteria:

• All contraindications for undergoing an MRI scan

Related Conditions & MeSH terms

• Limb-girdle Muscular Dystrophy
• Muscular Dystrophies

Locations

Country	Name	City	State
Denmark	Copenhagen Neuromuscular Center, Rigshospitalet	Copenhagen

Sponsors (1)

Lead Sponsor	Collaborator
Rigshospitalet, Denmark

Country where clinical trial is conducted

Denmark, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	MRI scan for qualitative analysis of muscle involvement	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.	One MRI scan per subject (exam lasts approximately 60 min.)
Secondary	Muscle Biopsy	One muscle biopsy from each patient from the tibialis anterior muscle or the deltoid muscle will be analyzed for glycosylated a-dystroglycan, merosin and POMT2. (Concentration determined by standard biochemical analysis).	One muscle biopsy per subject (last approximately 15 min.)
Secondary	10 meter walk test	Measurement of the time it takes to walk 10 meters.	Exam last approximately 5 min
Secondary	Neurological examination and test of muscle strength	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).	Exam last approximately 15 min.
Secondary	Questionnaires	Data will be collected using Minimal mental examination (MMSE)	Data will be collected once for patients with LGMD2N (exam last approximately 45 min.)
Secondary	Heart examination	Echocardiography and Electrocardiogram (ECG).	Exam last approximately 45 min
Secondary	Forced Vital Capacity (FVC)	FVC is measured as the best of three attempts using a hand-held spirometer.	Exam last approximately 15 min
Secondary	Electromyography (EMG)	EMG is used for measuring nerve conducting velocity and neuromuscular activity with repetitive stimulation (3Hz).	Exam last approximately 30 min