MRI and Muscle Involvement in Patients With Mutations in GMPPB

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT02635321

Enrollment

Registered

2015-12-18

Start date

2015-11-30

Completion date

2016-04-30

Last updated

2016-04-06

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Limb-girdle Muscular Dystrophy

Keywords

MRI, LGMD, GMPPB

Brief 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.

Interventions

None listed

Study design

Observational model

CASE_ONLY

Time perspective

CROSS_SECTIONAL

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

Healthy volunteers

Inclusion criteria

* Persons with genetically verified mutations in GMPPB

Exclusion criteria

* All contraindications for undergoing an MRI scan

Design outcomes

Primary

Measure	Time frame	Description
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 developed by Mercuri et al. (2007).

Secondary

Measure	Time frame	Description
10 meter walk test	Exam last approximately 5 min.	Measurement of the time it takes to walk 10 meters.
Neurological examination and test of muscle strength	Exam last approximately 15 min.	Muscle strength (in arms and legs) will be examined based on the Medical Research Council (MRC) scale.
Questionnaires	Data will be collected once for patients with LGMD 2T (exam last approximately 45 min.)	Data will be collected using Minimal mental examination (MMSE) and Fatigue Severity Scale (FSS).
Muscle biopsy for biochemical investigation	One muscle biopsy per subject (last approximately 15 min.)	Muscle biopsies from the tibialis anterior muscle and the deltoid muscle will be analyzed for glycosylated α-dystroglycan, merosin and GMPPB. (Concentration determined by standard biochemical analysis).
Forced Vital Capacity (FVC)	Exam last approximately 15 min	FVC is measured as the best of three attempts using a hand-held spirometer.
Electromyography (EMG)	Exam last approximately 30 min	EMG is used for measuring nerve conducting velocity and neuromuscular activity.
Heart examination	Exam last approximately 45 min	Echocardiography and Electrocardiogram (ECG).

Countries

Denmark

Outcome results