Assessment of Neurodevelopmental Needs in Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy Clinical Trial

Official title:

Assessment of Neurodevelopmental Needs in Duchenne Muscular Dystrophy

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05280730
• Other study ID #: HM20016614
• Status: Recruiting
• Start date: February 2, 2022
• Est. completion date: December 2024

Study information

• Verified date: April 2024
• Source: Virginia Commonwealth University
• Contact: Matthew Ridder, BS
• Phone: 804-828-5269
• Email: Matthew.Ridder[@]vcuhealth.org
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 90
• Est. completion date: December 2024
• Est. primary completion date: December 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: 3 Years and older

Eligibility

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.

Related Conditions & MeSH terms

• Duchenne Muscular Dystrophy
• Muscular Dystrophies
• Muscular Dystrophy, Duchenne

Intervention

Other:
• No intervention
There is no intervention

Locations

Country	Name	City	State
United States	Children's Hospital of Richmond	Richmond	Virginia

Sponsors (3)

Lead Sponsor	Collaborator
Virginia Commonwealth University	Northwestern University, University of Rochester

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Change in NIHTB-CB Total Cognition Score over time		baseline and 18 months
Primary	Change in brain connectivity over time	Change in brain connectivity as measured by brain MRI	baseline and 12 months