Clinical Trial Readiness for the Dystroglycanopathies
Katherine Mathews
Summary
The purpose of the study is to describe the early signs and symptoms of the dystroglycanopathies, and to gather information that will be required for future clinical trials.
Description
Muscular dystrophies are a diverse group of inherited disorders characterized by progressive muscle weakness and wasting. The disorders are caused by mutations, or changes, in genes. Genes are tiny pieces of inherited material (DNA) that direct the body to make certain kinds of proteins. In this study, researchers will examine the clinical presentation of muscular dystrophy caused by abnormal glycosylation of alpha-dystroglycan. Patients with dystroglycanopathies could have mutations in any one of the more than 20 currently identified genes, or evidence of dystroglycanopathy in biopsied muscl…
Eligibility
- Age range
- Not specified
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: * Elevated CK (creatine kinase) * Evidence of a dystroglycanopathy as determined by review of muscle pathology OR documented mutation in one of the known genes OR abnormal alpha-dystroglycan glycosylation in cultured fibroblasts * Dystroglycanopathies are predicted to affect all racial and ethnic backgrounds, and all patients with dystroglycanopathies will be eligible for participation. * Participants may be of any age, including children, and males and females will be recruited equally. * Patients will have varying degrees of muscular weakness, but otherwise should be in…
Location
- University of Iowa, 200 Hawkins DriveIowa City, Iowa