Understanding early signs of dystroglycanopathies in muscular dystrophy
Clinical Trial Readiness for the Dystroglycanopathies
This study is looking to find out the early signs and symptoms of dystroglycanopathies in people with muscular dystrophy to help improve future treatments and care.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 190 (estimated) |
| Sex | All |
| Sponsor | University of Iowa Academic / other |
| Locations | 1 site (Iowa City, Iowa) |
| Trial ID | NCT00313677 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include individuals with elevated CK levels and evidence of dystroglycanopathy, regardless of age or gender.
Not a fit: Patients without evidence of dystroglycanopathy or those not meeting the inclusion criteria may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved healthcare recommendations and potential treatment options for patients with dystroglycanopathies.
How similar studies have performed: While this approach is observational and foundational, similar studies have successfully characterized other muscular dystrophies, indicating potential for valuable insights.
Eligibility criteria
Show full inclusion / exclusion criteria
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 this trial is running
Iowa City, Iowa
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.