Duchenne Muscular DystrophyNCT05280730
Assessment of Neurodevelopmental Needs in Duchenne Muscular Dystrophy
An observational study of Duchenne Muscular Dystrophy, run by Virginia Commonwealth University at 1 site in United States.
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. Read more about this study
- Who is it for?
- Ages 3 years and older
- Conditions the study is for
- Duchenne Muscular Dystrophy
- How many people
- 50 participants
- Where
- 1 siteUnited States
- Study dates
- 2 Feb 2022to 30 Sep 2024
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 3 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Eligible subjects will be recruited nationally.
Who may be able to join
- 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
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
United States1 site
Children's Hospital of Richmond
Richmond, Virginia, 23219
About this study
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.
Read the 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.
- Conditions
- Duchenne Muscular Dystrophy
- Being tested
- No intervention
- Medical subject headings
- Muscular Dystrophy, Duchenne
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No interventionOther
There is no intervention
| Study group | Role | What they receive |
|---|---|---|
| Boys with DMD | Boys ages 3 and above will be enrolled. Receives: Other: No intervention | |
| Healthy boys | Healthy boys as a control group for brain imaging. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change in NIHTB-CB Total Cognition Score over time
Measured: baseline and 18 months
Change in brain connectivity over time
Change in brain connectivity as measured by brain MRI
Measured: baseline and 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Mar 2022
- Study start2 Feb 2022
- Primary completion30 Sep 2024
- Study completion30 Sep 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Duchenne Muscular DystrophyStudies of the same condition, open and under way.
- More trials run by Virginia Commonwealth UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 50 participants (actual)
Sponsor and investigators
- Lead sponsor
- Virginia Commonwealth University
- Sponsor type
- University, hospital or other
- Collaborators
- Northwestern University, University of Rochester
- Responsible party
- Sponsor
- Investigators
- Mathula Thangarajh, MD, PhD, Principal investigator, Virginia Commonwealth University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05280730
- Sponsor's protocol ID
- HM20016614
- Status last verified
- Aug 2025
- First submitted
- 4 Mar 2022
- Last updated
- 14 Aug 2025
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 14 Aug 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Assessment of Neurodevelopmental Needs in Duchenne Muscular Dystrophy
- ClinicalTrials.gov ID
- NCT05280730
- Acronym / sponsor ID
- HM20016614
- Conditions
- Duchenne Muscular Dystrophy
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 50 participants (actual)
- Lead sponsor
- Virginia Commonwealth UniversityUniversity, hospital or other
- Collaborators
- Northwestern University, University of Rochester
- Study start
- 2 Feb 2022 (actual)
- Primary completion
- 30 Sep 2024 (actual)
- Study completion
- 30 Sep 2024 (actual)
- First posted
- 15 Mar 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Boys with DMD | – | Other: No interventionBoys ages 3 and above will be enrolled. |
| Healthy boys | – | –Healthy boys as a control group for brain imaging. |
Who may qualify
- Ages
- 3 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Eligible subjects will be recruited nationally.
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (3 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| No interventionThere is no intervention | Other | Boys with DMD |
Primary outcome
Change in NIHTB-CB Total Cognition Score over time
Time frame: baseline and 18 months
Change in brain connectivity over time
Time frame: baseline and 12 months
Change in brain connectivity as measured by brain MRI
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 14 Aug 2025.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Mathula Thangarajh, MD, PhD principal investigator
Virginia Commonwealth University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Duchenne Muscular Dystrophy, run by Virginia Commonwealth University at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 14 Aug 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in NIHTB-CB Total Cognition Score over time (time frame: baseline and 18 months). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 14 Aug 2025.