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Clinical Trial Readiness for the Dystroglycanopathies

Principal Investigator
Katherine D. Mathews, MD

In this project, researchers will examine the clinical presentation of muscular dystrophy caused by abnormal glycosylation of alpha-dystroglycan. Patients with dystroglycanopathies could have mutations in one of the following genes: FKRP, fukutin, POMT1, POMT2, POMGnT1 or LARGE. Symptoms range from congenital muscular dystrophy that can also involve the brain and eye, through an adult-onset limb girdle muscular dystrophy. 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. Knowledge gained from this study will improve the health care recommendations for people with dystroglycanopathies, and provide a baseline for further study.

 The study involves a clinical evaluation at theUniversityofIowa. 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 toIowa City. Support is also available for genetic testing for people with a dystroglycanopathy diagnosis based on muscle or skin biopsy analysis.

age group:0 to 80 years trial start date:July 1, 2011
Gender Preference:none Trial End Date: July 31, 2015
Contact Info:

This study is sponsored by the National Institutes of Health and is being directed by Dr. Katherine Mathews at the Universityof Iowa. If you are interested in participating or would like additional information, please contact the study coordinator Carrie Stephan R.N. by phone at (319) 356-2673 or by email at carrie-stephan@uiowa.edu

Keywords: Dystroglycanopathy ; Neurology ; Pediatric
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