Clinical trial NCT05280730: Assessment of Neurodevelopmental Needs in Duchenne Muscular Dystrophy
Official title: Assessment of Neurodevelopmental Needs in Duchenne Muscular Dystrophy
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Duchenne Muscular Dystrophy
Lead sponsor: Virginia Commonwealth University
Sponsor class: OTHER
Collaborators: name: Northwestern University
name: University of Rochester
First posted: 2022-03-15
Enrollment: 90
Sex: ALL
Minimum age (years): 3
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Eligible subjects will be recruited nationally.

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.

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.

Primary outcomes:
measure: Change in NIHTB-CB Total Cognition Score over time
timeFrame: baseline and 18 months
measure: Change in brain connectivity over time
timeFrame: baseline and 12 months
Secondary outcomes:
Other outcomes:
Locations:
city: Richmond
country: United States
facility: Children's Hospital of Richmond
state: Virginia
Study officials:
affiliation: Virginia Commonwealth University
name: Mathula Thangarajh, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References: