MRI and Muscle Involvement in Patients With Mutations in GMPPB

Limb-girdle Muscular Dystrophy Clinical Trial

Official title:

MRI and Muscle Involvement in Patients With Mutations in GMPPB

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02635321
• Other study ID #: STO-GMPPB
• Status: Completed
• Phase: N/A
• First received: December 1, 2015
• Last updated: April 5, 2016
• Start date: November 2015
• Est. completion date: April 2016

Study information

• Verified date: April 2016
• Source: Rigshospitalet, Denmark
• Contact: n/a
• Is FDA regulated: No
• Health authority: Denmark: National Board of Health
• Study type: Observational

Clinical Trial Summary

Limb girdle muscular dystrophies (LGMD) are a very heterogeneous group of muscle disorders 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.

A new type - type 2T has been found. The genetic cause of type 2T is mutations in Guanosine Diphosphate (GDP)-mannose pyrophosphorylase B (GMPPB). Mutations in GMPPB can also cause Congenital muscular dystrophies (CMD). Only 41 patients with mutations in GMPPB 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: 4
• Est. completion date: April 2016
• Est. primary completion date: April 2016
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 18 Years and older

Eligibility

Inclusion Criteria:

• Persons with genetically verified mutations in GMPPB

Exclusion Criteria:

• All contraindications for undergoing an MRI scan

Study Design

Observational Model: Case-Only, Time Perspective: Cross-Sectional

Related Conditions & MeSH terms

• Limb-girdle Muscular Dystrophy
• Muscular Dystrophies

Locations

Country	Name	City	State
Denmark	Copenhagen Neuromuscular Center	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 developed by Mercuri et al. (2007).	One MRI scan per subject (exam lasts approximately 60 min.)	No
Secondary	Muscle biopsy for biochemical investigation	Muscle biopsies from the tibialis anterior muscle and the deltoid muscle will be analyzed for glycosylated a-dystroglycan, merosin and GMPPB. (Concentration determined by standard biochemical analysis).	One muscle biopsy per subject (last approximately 15 min.)	No
Secondary	10 meter walk test	Measurement of the time it takes to walk 10 meters.	Exam last approximately 5 min.	No
Secondary	Neurological examination and test of muscle strength	Muscle strength (in arms and legs) will be examined based on the Medical Research Council (MRC) scale.	Exam last approximately 15 min.	No
Secondary	Questionnaires	Data will be collected using Minimal mental examination (MMSE) and Fatigue Severity Scale (FSS).	Data will be collected once for patients with LGMD 2T (exam last approximately 45 min.)	No
Secondary	Heart examination	Echocardiography and Electrocardiogram (ECG).	Exam last approximately 45 min	No
Secondary	Forced Vital Capacity (FVC)	FVC is measured as the best of three attempts using a hand-held spirometer.	Exam last approximately 15 min	No
Secondary	Electromyography (EMG)	EMG is used for measuring nerve conducting velocity and neuromuscular activity.	Exam last approximately 30 min	No