Evaluation of Limb-Girdle Muscular Dystrophy

Completed

Conditions studied: Becker Muscular Dystrophy, Limb-Girdle Muscular Dystrophy, Type 2A (Calpain-3 Deficiency), Limb-Girdle Muscular Dystrophy, Type 2B (Miyoshi Myopathy, Dysferlin Deficiency), Limb-Girdle Muscular Dystrophy, Type 2I (FKRP-deficiency)

In brief

The purpose of this study is to understand the biochemistry of different types of Limb-Girdle Muscular Dystrophy (LGMD) and to determine appropriate outcome measures for future clinical treatment trials for LGMD. It is being conducted at two sites in the Cooperative International Neuromuscular Research Group (CINRG). It involves a one day clinical evaluation at a participating institution that will take approximately four to six hours, and will involve strength testing and muscle functional testing by a physical therapist, an evaluation by a physician, pulmonary function testing, a complete cardiac evaluation with electrocardiogram (ECG or EKG) and echocardiogram (Echo), and involve two blood draws, one before the evaluation and one after the evaluation is complete. During the visit, the participant will be asked to fill out a couple of questionnaires asking questions about quality of life and activity limitations, as well as his/her understanding of their diagnosis with regards to etiology (or cause of their muscle disorder), genetics, and inheritance of their muscle disorder.

Key facts

Study ID

NCT00893334

Run by

Cooperative International Neuromuscular Research Group

People needed

60

Starts

2009-04-01

Expected to finish

2013-12-01

Last updated by the study team

2014-03-07

Who can join

Age: 18 and older. Sex: any. Healthy volunteers: accepted.

You may qualify if…

• 18 years of age or older.
• Diagnosis of LGMD2I, LGMD2A, LGMD2B, or BMD as determined by muscle biopsy immunohistochemistry, immunoblotting, or molecular analysis.
• Able to travel to study site
• Normal controls will be recruited as either friends of the study participants or through separate recruitment.

You may not qualify if…

• Unable to travel to study site.
• Do not have the diagnosis of LGMD2I, LGMD2A, LGMD2B, or BMD after review of clinical testing.

Where it is running

• Children's National Medical Center — Washington D.C., District of Columbia, United States
• Carolinas Medical Center — Charlotte, North Carolina, United States

Full record on ClinicalTrials.gov

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