Assessment of Neurodevelopmental Needs in Duchenne Muscular Dystrophy

Launched by VIRGINIA COMMONWEALTH UNIVERSITY · Mar 4, 2022

Keywords

ClinConnect Summary

This clinical trial is studying Duchenne Muscular Dystrophy (DMD), a genetic condition that leads to muscle weakness and can also affect brain development. The researchers want to learn more about how boys with DMD develop mentally over time, using a special tool called the NIH Toolbox Cognition Battery to assess their cognitive skills. They will also talk with families to understand how DMD affects daily life and use brain scans (MRI) to look at changes in how the brain connects and works.

Boys aged 3 and older who have been diagnosed with DMD or have a family history of the disease may be eligible to participate. This includes boys with a confirmed genetic mutation in the dystrophin gene or those who show symptoms of DMD. Participants will engage in activities to assess their cognitive development and undergo MRI scans. It’s important to note that caregivers must be able to give consent, and participants cannot have any metal implants that would affect the MRI scans. This study aims to provide valuable insights that could help improve understanding and treatment for DMD.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Boys with confirmed genetic mutation in the dystrophin gene
• • Boys with clinical features of DMD and in whom muscle biopsy showed absence of dystrophin
• • Boys with clinical features of DMD and in whom there is a family history of DMD
• • Symptomatic carrier girls with DMD
• • Ages 3 and above at time of study screening
• Exclusion Criteria:
• • Care-giver unable to give consent
• • Any handicap that does not allow the ability to use an IPAD
• • For MRI, braces or any metal implants.