Assessment of Neurodevelopmental Needs in Duchenne Muscular Dystrophy

NCT05280730 | Completed

• 1 other identifier: HM20016614
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 1

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.

Conditions

Duchenne Muscular Dystrophy

Outcome Measures

Primary Outcomes (2)

• Change in NIHTB-CB Total Cognition Score over time

  baseline and 18 months

• Change in brain connectivity over time

  Change in brain connectivity as measured by brain MRI

  baseline and 12 months

Study Arms (2)

Boys with DMD

Boys ages 3 and above will be enrolled.

Other: No intervention

Healthy boys

Healthy boys as a control group for brain imaging.

Interventions

No intervention OTHER

There is no intervention

Boys with DMD

Eligibility Criteria

• Age: 3 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Eligible subjects will be recruited nationally.

You may qualify if:

• 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

You may not qualify if:

• 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.

Sponsors & Collaborators

• Virginia Commonwealth University: lead
• Northwestern University: collaborator
• University of Rochester: collaborator

Study Sites (1)

Children's Hospital of Richmond

Richmond, Virginia, 23219, United States

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

Anonymized behavioral data and imaging data

MeSH Terms

Conditions

Muscular Dystrophy, Duchenne

Condition Hierarchy (Ancestors)

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

Study Officials

• Mathula Thangarajh, MD, PhD

  Virginia Commonwealth University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 4, 2022
• First Posted: March 15, 2022
• Study Start: February 2, 2022
• Primary Completion: September 30, 2024
• Study Completion: September 30, 2024
• Last Updated: August 14, 2025

Record last verified: 2025-08

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)