Clinical Trial Readiness for the Dystroglycanopathies

Launched by KATHERINE MATHEWS · Apr 10, 2006

Keywords

ClinConnect Summary

This clinical trial is focused on understanding a group of muscular conditions called dystroglycanopathies. The goal is to identify early signs and symptoms of these disorders, which will help in planning future studies and treatments. The trial is currently looking for participants of all ages, including children, and welcomes both males and females from different backgrounds who have been diagnosed with a dystroglycanopathy. To be eligible, participants need to have certain markers, such as elevated levels of a muscle enzyme called CK, and evidence of the condition based on muscle tests or genetic information.

If you or someone you know may qualify, you can expect to be part of a study that aims to improve understanding of these conditions. Participants will not be turned away based on their health status, as long as they are generally well, and there are no specific exclusions. This is an important step to gather necessary information that could lead to better treatments for those affected by muscular dystrophy.

Gender

ALL

Eligibility 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.