Duchenne Muscular Dystrophy
Conditions
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.
Interventions
OTHERNo intervention
There is no intervention
Sponsors
Northwestern University
University of Rochester
Virginia Commonwealth University
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
3 Years to No maximum
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Change in NIHTB-CB Total Cognition Score over time | baseline and 18 months | — |
| Change in brain connectivity over time | baseline and 12 months | Change in brain connectivity as measured by brain MRI |
Countries
United States
Outcome results
None listed