Molecular and Genetic Studies of Congenital Myopathies

Launched by BOSTON CHILDREN'S HOSPITAL · Jan 5, 2006

Keywords

ClinConnect Summary

This clinical trial, based at Boston Children's Hospital and Harvard Medical School, is focused on understanding congenital myopathies, which are muscle diseases that people are born with. The researchers are looking specifically at conditions like central core disease, centronuclear myopathy, and several others. Their main goal is to learn more about the genes and proteins that are important for muscle function. By doing this research, they hope to improve how these conditions are diagnosed and treated in the future.

If you or a family member has been diagnosed with a congenital myopathy, you may be eligible to participate in this study. There are no specific exclusions, so anyone with a clinical or suspected diagnosis of these muscle diseases can join, along with their family members. Participants will help researchers gather important information that could lead to better care for individuals with these conditions. For more details, you can visit their laboratory website.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Individuals with a clinical or suspected diagnosis of a congenital myopathy and their family members
• Exclusion Criteria:
• • No specific exclusion criteria. Our studies do not include myotonia congenita or related conditions.