Assessment of Neurodevelopmental Needs in Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy is a genetic disease that causes progressive muscle weakness. There is now substantial evidence that boys with this disease do not demonstrate age-related gains in their cognitive skills.

The goals of this study are (i) to use a technology-enabled neurobehavioral assessment called National Institutes of Health Toolbox Cognition Battery (NIHTB-CB) to assess brain development over time; (ii) engage with key-stakeholders to understand how neurodevelopmental problems like attention-deficit hyperactivity, autism spectrum affects individuals (and/or) families, so that we can understand meaningful effects of a potential treatment at an individual level, and (iii) to investigate using brain magnetic resonance imaging (MRI) changes in brain connectivity.

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Key information

Conditions

Duchenne Muscular Dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Genetic Diseases, X-Linked Muscular Diseases Muscular Disorders, Atrophic Muscular Dystrophies Muscular Dystrophy, Duchenne Musculoskeletal Diseases Nervous System Diseases Neuromuscular Diseases

Age range

3 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Children's Hospital of Richmond

Richmond, Virginia, 23219, United States

About this study

Participants will be asked to do tasks such as solve puzzles, pay attention, and remember things through the NIHTB-CB administered using an IPad as well as complete questionnaires. The NIHTB-CB will be done four times (first visit, within 1 month after first visit, 12 months after first visit, and 18 months after first visit). NIHTB-CB takes about 20 to 35 minutes to complete.

Participants will also undergo brief assessment of the upper limbs; these tests will be administered by trained physical therapists and will take about 5 minutes.

Focus group: A focus group consisting of families and individuals affected by DMD will be invited to share their journey of cognitive and developmental needs. The focus group will be conducted online via the study team and is planned to last between 1 to 1.5 hours. This is optional for families.

A non-sedated brain MRI will be performed twice; scans will be separated by a one-year interval. (A child has to be age 8 or older to participate in a brain scan.) Brain imaging is optional for families.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

No intervention

Other

There is no intervention

Primary outcomes

Change in NIHTB-CB Total Cognition Score over time

Time frame: baseline and 18 months
Change in brain connectivity over time

Time frame: baseline and 12 months

Change in brain connectivity as measured by brain MRI

Sponsors and collaborators

Lead sponsor

Virginia Commonwealth University

Other

Collaborators

Northwestern University
University of Rochester

Registry information

Important dates

Study start: 2022
Primary completion: 2024
Study completion: 2024
First posted: Mar 15, 2022
Registry last updated: Aug 14, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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Completed