MRI and Muscle Involvement in Patients With Mutations in GMPPB

NCT02635321 | Completed

• 1 other identifier: STO-GMPPB
• Study Type: observational
• Target: 4
• Locations: 1 country
• Sites: 1

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.

Conditions

Limb-girdle Muscular Dystrophy

Keywords

MRI; LGMD; GMPPB

Outcome Measures

Primary Outcomes (1)

• 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.)

Secondary Outcomes (7)

• Muscle biopsy for biochemical investigation

  One muscle biopsy per subject (last approximately 15 min.)

• 10 meter walk test

  Exam last approximately 5 min.

• Neurological examination and test of muscle strength

  Exam last approximately 15 min.

• Questionnaires

  Data will be collected once for patients with LGMD 2T (exam last approximately 45 min.)

• Heart examination

  Exam last approximately 45 min

Study Arms (1)

Patients with LGMD 2T

Four patients over 18 years old with genetically verified LGMD 2T.

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Persons diagnosed with mutations in GMPPB in Denmark and France are invited to the study.

You may qualify if:

• Persons with genetically verified mutations in GMPPB

You may not qualify if:

• All contraindications for undergoing an MRI scan

Sponsors & Collaborators

• Rigshospitalet, Denmark: lead

Study Sites (1)

Copenhagen Neuromuscular Center

Copenhagen, Copenhagen, 2100, Denmark

Location

MeSH Terms

Conditions

Muscular Dystrophies, Limb-Girdle

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Sofie T Østergaard, Bsc.

  Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, Copenhagen University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Bachelor of Science

Study Record Dates

• First Submitted: December 1, 2015
• First Posted: December 18, 2015
• Study Start: November 1, 2015
• Primary Completion: April 1, 2016
• Study Completion: April 1, 2016
• Last Updated: April 6, 2016

Record last verified: 2016-04

Locations

DK (1)