Clinical Trial Readiness for the Dystroglycanopathies

What this Trial Is About

Researchers are studying dystroglycanopathies, a group of muscular dystrophies caused by abnormal glycosylation of alpha-dystroglycan. These inherited disorders involve mutations in more than 20 known genes and cause progressive muscle weakness ranging from congenital muscular dystrophy affecting the brain and eyes to adult-onset limb girdle muscular dystrophy. The study aims to describe early signs and symptoms and collect information needed for future clinical trials. This observational study includes clinical evaluations at the University of Iowa, where participants undergo muscle strength and motor ability testing, lung function tests, quality of life and activity assessments, and a review of their medical history. These evaluations will be repeated approximately once a year. Financial assistance is available to help with travel, and genetic testing support is offered to those diagnosed through muscle or skin biopsy analysis. Participants will be involved in regular assessments to monitor muscle function, including a 10-meter walk test and a 4-stair climb test, repeated annually through the study. Researchers will use this information to improve healthcare recommendations and establish a baseline for future studies and potential treatments. The study allows participation of individuals of any age and sex with varying degrees of muscle weakness but who are otherwise in relatively good health.

Clinical Trial Readiness for the Dystroglycanopathies