Assessment of Neurodevelopmental Needs in Duchenne Muscular Dystrophy

NCT ID: NCT05280730

Last Updated: 2025-08-14

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 50 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2022-02-02
• Study Completion Date: 2024-09-30

Brief Summary

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.

Detailed Description

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.

Conditions

Duchenne Muscular Dystrophy

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Study Groups

Boys with DMD

Boys ages 3 and above will be enrolled.

No intervention

Intervention Type: OTHER

There is no intervention

Healthy boys

Healthy boys as a control group for brain imaging.

No interventions assigned to this group

Interventions

No intervention

There is no intervention

Intervention Type: OTHER

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.

• Minimum Eligible Age: 3 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Northwestern University

OTHER

Sponsor Role: collaborator

University of Rochester

OTHER

Sponsor Role: collaborator

Virginia Commonwealth University

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Mathula Thangarajh, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Virginia Commonwealth University

Locations

Children's Hospital of Richmond

Richmond, Virginia, United States

Countries

United States

Other Identifiers

HM20016614

Identifier Type: -

Identifier Source: org_study_id