Understanding early signs of dystroglycanopathies in muscular dystrophy

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to describe the early signs and symptoms of dystroglycanopathies, a group of muscular dystrophies caused by genetic mutations. Researchers will conduct clinical evaluations at the University of Iowa, which include assessments of muscle strength, motor ability, lung function, and quality of life. The study will gather essential information to support future clinical trials and improve healthcare recommendations for affected individuals. Participants will be evaluated annually, and financial assistance for travel and genetic testing will be provided.

Why it matters

Who can join: the full rules

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 relatively good health.

Exclusion Criteria:

* There are no exclusion criteria.

Where it's running

• University of Iowa, 200 Hawkins Drive
  Iowa City, Iowa, United States Recruiting

Study contacts

• Principal investigator: Katherine Mathews, M.D. — University of Iowa
• Study coordinator: Carrie Stephan, R.N. M.A.
• Phone: (319) 356-2673

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.