Assessment of Neurodevelopmental Needs in Duchenne Muscular Dystrophy

Study Overview
=================
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.

Official Title
-----------------
Assessment of Neurodevelopmental Needs in Duchenne Muscular Dystrophy

Conditions
-----------------
Duchenne Muscular Dystrophy

Intervention / Treatment
-----------------
* Other: No intervention


Participation Criteria
=================
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.

Ages Eligible for Study
-----------------
Minimum Age: 3 Years

Sexes Eligible for Study
-----------------
All

Accepts Healthy Volunteers
-----------------
No

Study Plan
=================
How is the study designed?
-----------------

Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Boys with DMD<br>Boys ages 3 and above will be enrolled. | Other: No intervention<br>* There is no intervention<br>|
| Healthy boys<br>Healthy boys as a control group for brain imaging. | |

What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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 |