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Assessment of Neurodevelopmental Needs in Duchenne Muscular Dystrophy

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ClinicalTrials.gov Identifier: NCT05280730
Recruitment Status : Recruiting
First Posted : March 15, 2022
Last Update Posted : March 16, 2023
Northwestern University
University of Rochester
Information provided by (Responsible Party):
Virginia Commonwealth University

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.

Condition or disease Intervention/treatment
Duchenne Muscular Dystrophy Other: No intervention

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.

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Study Type : Observational
Estimated Enrollment : 90 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Assessment of Neurodevelopmental Needs in Duchenne Muscular Dystrophy
Actual Study Start Date : February 2, 2022
Estimated Primary Completion Date : December 2024
Estimated Study Completion Date : December 2024

Group/Cohort Intervention/treatment
Boys with DMD
Boys ages 3 and above will be enrolled.
Other: No intervention
There is no intervention

Healthy boys
Healthy boys as a control group for brain imaging.

Primary Outcome Measures :
  1. Change in NIHTB-CB Total Cognition Score over time [ Time Frame: baseline and 18 months ]
  2. Change in brain connectivity over time [ Time Frame: baseline and 12 months ]
    Change in brain connectivity as measured by brain MRI

Biospecimen Retention:   Samples Without DNA
Anonymized behavioral data and imaging data

Information from the National Library of Medicine

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Ages Eligible for Study:   3 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Eligible subjects will be recruited nationally.

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05280730

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Contact: Matthew Ridder, BS 804-828-5269 Matthew.Ridder@vcuhealth.org
Contact: Mathula Thangarajh, MD, PhD 804-628-0396 Mathula.Thangarajh@vcuhealth.org

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United States, Virginia
Children's Hospital of Richmond Recruiting
Richmond, Virginia, United States, 23219
Sponsors and Collaborators
Virginia Commonwealth University
Northwestern University
University of Rochester
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Principal Investigator: Mathula Thangarajh, MD, PhD Virginia Commonwealth University
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Responsible Party: Virginia Commonwealth University
ClinicalTrials.gov Identifier: NCT05280730    
Other Study ID Numbers: HM20016614
First Posted: March 15, 2022    Key Record Dates
Last Update Posted: March 16, 2023
Last Verified: March 2023
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Muscular Dystrophies
Muscular Dystrophy, Duchenne
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Genetic Diseases, X-Linked