Clinical Trial Readiness for the Dystroglycanopathies
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT00313677|
Recruitment Status : Recruiting
First Posted : April 12, 2006
Last Update Posted : May 27, 2020
|Condition or disease|
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 18 currently identified genes, or evidence of dystroglycanopathy in biopsied muscle tissue . Symptoms range from congenital muscular dystrophy that may involve the brain and eye, through an adult-onset limb girdle muscular dystrophy.
The study involves a clinical evaluation at the University of Iowa. The evaluation includes muscle strength and motor ability testing, lung function testing, quality of life and activity assessment, and a review of past medical history. Portions of this evaluation will be repeated on a yearly basis. Financial assistance is available for travel to Iowa City. Support is also available for genetic testing for people with a dystroglycanopathy diagnosis based on muscle or skin biopsy analysis.
Knowledge gained from this study will improve healthcare recommendations for people with dystroglycanopathies, and provide a baseline for further study, including potential treatment options.
|Study Type :||Observational|
|Estimated Enrollment :||160 participants|
|Official Title:||Clinical Trial Readiness for the Dystroglycanopathies|
|Study Start Date :||April 2006|
|Estimated Primary Completion Date :||July 2020|
|Estimated Study Completion Date :||July 2020|
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00313677
|Contact: Carrie Stephan, R.N. M.A.||(319) 356-2673|
|United States, Iowa|
|University of Iowa, 200 Hawkins Drive||Recruiting|
|Iowa City, Iowa, United States, 52242|
|Contact: Carrie Stephan, R.N. M.A. 319-356-2673|
|Principal Investigator:||Katherine Mathews, M.D.||University of Iowa|
|Study Director:||Kevin Campbell, Ph.D.||Co-Investigator|
|Study Director:||Steven A. Moore, M.D. Ph.D.||Co-Investigator|