Assessment of Neurodevelopmental Needs in Duchenne Muscul... | NCT05280730

Studies
Assessment of Neurodevelopmental Needs in Duchenne Muscular Dystrophy

NCT05280730

Sponsor

Virginia Commonwealth University

Status

Completed

Last Update Posted

Aug 14, 2025Actual

Enrollment

50Actual

Phase

Not provided

Conditions

Duchenne Muscular Dystrophy

Interventions

No intervention

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Aug 2025

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Feb 2, 2022Actual

Primary Completion Date

Sep 30, 2024Actual

Completion Date

Sep 30, 2024Actual

First Submitted Date

Mar 4, 2022

First Submission Date that Met QC Criteria

Mar 4, 2022

First Posted Date

Mar 15, 2022Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Aug 12, 2025

Last Update Posted Date

Aug 14, 2025Actual

Name	Class
Northwestern University	OTHER
University of Rochester	OTHER

Oversight Module

Has Data Monitoring Committee (DMC)

Not provided

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

50Actual

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Boys with DMD		Boys ages 3 and above will be enrolled.	Other: No intervention
Healthy boys		Healthy boys as a control group for brain imaging.

Interventions

Name	Type	Description	Arm Group Labels	Other Names
No intervention	Other	There is no intervention	Boys with DMD

Outcomes Module

Primary Outcomes

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

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

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.

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

3 Years

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Eligible subjects will be recruited nationally.

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Mathula Thangarajh, MD, PhD	Virginia Commonwealth University	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Children's Hospital of Richmond		Richmond	Virginia	23219	United States

IPD Sharing Statement Module

Plan to Share IPD

Description

Not provided

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

Condition Browse Module

MeSH Terms

ID	Term
D020388	Muscular Dystrophy, Duchenne

Ancestor Terms

ID	Term
D009136	Muscular Dystrophies
D020966	Muscular Disorders, Atrophic
D009135	Muscular Diseases
D009140	Musculoskeletal Diseases

Browse Leaves

Not provided

Browse Branches

Not provided