Duchenne Muscular Dystrophy (DMD)BABY DUCHENNENCT07092540
The Baby Duchenne Study: Characterizing Developmental and Clinical Outcomes in the First Three Years in Children With Duchenne Muscular Dystrophy
An observational study of Duchenne Muscular Dystrophy (DMD), run by University of Rochester at 4 sites in United States.
Trial summary
The aim of the BABY DUCHENNE study is to evaluate the natural history and characterize the early clinical outcomes in very young children (0-3 years) with Duchenne muscular dystrophy (DMD) identified by newborn screening programs. Read more about this study
- Who is it for?
- Ages 0 days to 3 years, men only
- Conditions the study is for
- Duchenne Muscular Dystrophy (DMD)
- How many people
- 105 participants
- Where
- 4 sitesUnited States
- Study dates
- 3 Jun 2026to 31 Aug 2029
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 0 days to 3 years
- Men only
- No healthy volunteers
- Child
Study population: Males with genetically confirmed diagnosis of DMD (Duchenne Muscular Dystrophy)
Who may be able to join
- Male child between birth and 3.0 years of age at time of enrollment.
- A confirmed and documented pathogenic or likely pathogenic variant in the DMD gene.
- Ability of parent/guardian to understand and provide written informed consent (signing Parental Permission and Consent Form).
- Willingness of parent/guardian to comply with the protocol Schedule of Activities, including all study site visits.
Who cannot join
- Female
- Presence of any confirmed genetic disease, other than DMD, that could impact early development, which, in the opinion of the PI, may confound interpretation of developmental progress.
- Presence of any significant medical condition (i.e., extreme prematurity, hypoxic ischemic encephalopathy) which, in the opinion of the PI, may confound interpretation of the clinical course of DMD.
- Inability/unwillingness of parent/guardian to provide written permission (sign PPF) or to comply with the protocol Schedule of Activities.
Trial locations and contacts
4 sites in 1 country. Contact the study team or a site near you to ask about taking part.
United States4 sites, 4 recruiting
- Not yet recruiting
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, 45226
Angela Edmondson, 513-636-9285, Angela.Edmondson@cchmc.org
Cuixia Tian, M.D.
- Recruiting
Nationwide Children's Hospital
Columbus, Ohio, 43205
Smitha Poondla, 614-722-8227, Smitha.Poondla@nationwidechildrens.org
Megan Waldrop, M.D.
- Recruiting
University of Rochester
Rochester, New York, 14618
- Not yet recruiting
Stony Brook Medicine
Stony Brook, New York, 11794
Christine Pol, 631-444-9083, Christiana.Pol@Stonybrookmedicine.edu
Simona Treidler, M.D.
About this study
The aim of the BABY DUCHENNE study is to evaluate the natural history and characterize the early clinical outcomes in very young children (0-3 years) with Duchenne muscular dystrophy (DMD) identified by newborn screening programs.
- Conditions
- Duchenne Muscular Dystrophy (DMD)
- Keywords
- New born screening
- 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.
| Study group | Role | What they receive |
|---|---|---|
| Boys (0-3) of age diagnosed with DMD via new born screening | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Mean Change in Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley-4) Gross Motor Standard Score
The Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley-4), Gross Motor domain measures age-appropriate motor abilities such as crawling, standing, and walking in children aged 1 to 42 months. The Gross Motor Standard Score is derived by converting raw scores to age-normed standard scores (mean = 100; standard deviation = 15). Higher scores indicate better gross motor development.
Measured: Baseline to 36 months
Secondary outcomes (13)
Mean Change in Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley-4) Cognitive Standard Score
The Bayley-4 Cognitive domain measures early cognitive development, including attention, memory, and problem-solving abilities. Standard scores range from 40 to 160 (mean = 100; standard deviation = 15). Higher scores reflect better cognitive performance.
Measured: Baseline to 36 months
Mean Change in Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley-4) Fine Motor Standard Score
The Bayley-4 Fine Motor domain assesses hand and finger coordination tasks such as reaching and grasping. Standard scores range from 40 to 160 (mean = 100; standard deviation = 15). Higher scores indicate better fine motor development.
Measured: Baseline to 36 months
Mean Change in Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley-4) Expressive Language Standard Score
The Bayley-4 Expressive Language Standard Score is derived by converting raw scores to age-normed standard scores based on normative data for children ages 1 to 42 months. Standard scores range from 40 to 160, with a mean of 100 and a standard deviation of 15. Higher scores indicate more advanced expressive language abilities.
Measured: Baseline to 36 months
Mean Change in Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley-4) Receptive Language Standard Score
The Bayley-4 Receptive Language domain assesses a child's ability to understand spoken language. Scores range from 40 to 160 (mean = 100; SD = 15). Higher scores reflect better language comprehension.
Measured: Baseline to 36 months
Mean Change in World Health Organization Motor Milestone (WHOMM) Checklist Score
The WHO Motor Milestone (WHOMM) checklist records developmental attainment of 6 gross motor milestones, scored as achieved or not achieved. The score reflects the number of milestones achieved at each visit. Higher scores indicate greater motor milestone attainment for age.
Measured: Baseline to 36 months
Percentage of Participants Receiving Early Intervention Services
This outcome measures the proportion of participants who have initiated any early intervention service (e.g., physical, occupational, or speech therapy), based on caregiver report or medical record review.
Measured: Baseline to 36 months
Age at Initiation of Early Intervention Services
This outcome records the age (in months) at which participants first received early intervention services, based on caregiver report or documentation in the medical record.
Measured: Baseline to 36 months
Percentage of Participants Initiating Duchenne Muscular Dystrophy-Targeted Pharmacologic Treatment
This outcome measures the proportion of participants who began any DMD-targeted pharmacologic treatment (e.g., corticosteroids, exon-skipping therapies) during the study period, based on caregiver report or medical records.
Measured: Baseline to 36 months
Age at Initiation of Duchenne Muscular Dystrophy-Targeted Pharmacologic Treatment
This outcome records the age (in months) at which each participant initiated pharmacologic treatment for Duchenne Muscular Dystrophy, as reported by caregivers or documented in the medical record.
Measured: Baseline to 36 months
Percentage of Participants With a Neurobehavioral Diagnosis
This outcome reports the percentage of participants diagnosed with a neurobehavioral condition (e.g., autism spectrum disorder, ADHD) during the study, based on caregiver report or medical record review.
Measured: Baseline to 36 months
Age at First Neurobehavioral Diagnosis
This outcome records the age (in months) at which each participant received their first neurobehavioral diagnosis, as determined by caregiver report or medical record.
Measured: Baseline to 36 months
Mean Change in Duchenne Muscular Dystrophy Caregiver Reported Health Index Short Form (DMD-HI-SF) Score
The DMD Caregiver Reported Health Index Short Form (DMD-HI-SF) is a caregiver-reported questionnaire assessing burden related to the child's health. Total score is derived by summing item responses and converting to a standardized T-score. Higher scores indicate greater symptom burden.
Measured: Baseline to 36 months
Baseline North Star Ambulatory Assessment (NSAA) Total Score at Age 3 Years
The NSAA is a 17-item clinician-rated motor function scale validated for ambulant children with DMD. Each item is scored from 0 (unable) to 2 (normal), for a total score range of 0 to 34. A single NSAA total score will be recorded at the time of the participant's first assessment at age 3 years.
Measured: Baseline to 36 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Jul 2025
- Study start3 Jun 2026
- Primary completion31 Aug 2029 (estimated)
- Study completion31 Aug 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Duchenne Muscular Dystrophy (DMD)Studies of the same condition, open and under way.
- More trials run by University of RochesterThe 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
- Other
- Time perspective
- Prospective
- Enrolment
- 105 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Rochester
- Sponsor type
- University, hospital or other
- Collaborators
- United States Department of Defense
- Responsible party
- Principal investigator, Bo Hoon Lee, University of Rochester
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07092540
- Sponsor's protocol ID
- STUDY00009939
- Other IDs
- US Department of Defense
- Acronym
- BABY DUCHENNE
- Status last verified
- Aug 2026
- First submitted
- 22 Jul 2025
- Last updated
- 19 Aug 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 19 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Baby Duchenne Study: Characterizing Developmental and Clinical Outcomes in the First Three Years in Children With Duchenne Muscular Dystrophy
- ClinicalTrials.gov ID
- NCT07092540
- Acronym / sponsor ID
- BABY DUCHENNE / STUDY00009939
- Conditions
- Duchenne Muscular Dystrophy (DMD)
- Keywords
- New born screening
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 105 participants (estimated)
- Lead sponsor
- University of RochesterUniversity, hospital or other
- Collaborators
- United States Department of Defense
- Study start
- 3 Jun 2026 (actual)
- Primary completion
- 31 Aug 2029 (estimated)
- Study completion
- 31 Aug 2029 (estimated)
- First posted
- 30 Jul 2025 (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.
The aim of the BABY DUCHENNE study is to evaluate the natural history and characterize the early clinical outcomes in very young children (0-3 years) with Duchenne muscular dystrophy (DMD) identified by newborn screening programs.
Study design
- Observational model
- Other
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Boys (0-3) of age diagnosed with DMD via new born screening | – | – |
Who may qualify
- Ages
- 0 days to 3 years
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- Males with genetically confirmed diagnosis of DMD (Duchenne Muscular Dystrophy)
Key inclusion criteria (4 listed)
- Male child between birth and 3.0 years of age at time of enrollment.
- A confirmed and documented pathogenic or likely pathogenic variant in the DMD gene.
- Ability of parent/guardian to understand and provide written informed consent (signing Parental Permission and Consent Form).
- Willingness of parent/guardian to comply with the protocol Schedule of Activities, including all study site visits.
Key exclusion criteria (4 listed)
- Female
- Presence of any confirmed genetic disease, other than DMD, that could impact early development, which, in the opinion of the PI, may confound interpretation of developmental progress.
- Presence of any significant medical condition (i.e., extreme prematurity, hypoxic ischemic encephalopathy) which, in the opinion of the PI, may confound interpretation of the clinical course of DMD.
- Inability/unwillingness of parent/guardian to provide written permission (sign PPF) or to comply with the protocol Schedule of Activities.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Mean Change in Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley-4) Gross Motor Standard Score
Time frame: Baseline to 36 months
The Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley-4), Gross Motor domain measures age-appropriate motor abilities such as crawling, standing, and walking in children aged 1 to 42 months. The Gross Motor Standard Score is derived by converting raw scores to age-normed standard scores (mean = 100; standard deviation = 15). Higher scores indicate better gross motor development.
13 secondary outcomes
Mean Change in Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley-4) Cognitive Standard Score
Time frame: Baseline to 36 months
Mean Change in Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley-4) Fine Motor Standard Score
Time frame: Baseline to 36 months
Mean Change in Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley-4) Expressive Language Standard Score
Time frame: Baseline to 36 months
Mean Change in Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley-4) Receptive Language Standard Score
Time frame: Baseline to 36 months
Mean Change in World Health Organization Motor Milestone (WHOMM) Checklist Score
Time frame: Baseline to 36 months
Percentage of Participants Receiving Early Intervention Services
Time frame: Baseline to 36 months
Age at Initiation of Early Intervention Services
Time frame: Baseline to 36 months
Percentage of Participants Initiating Duchenne Muscular Dystrophy-Targeted Pharmacologic Treatment
Time frame: Baseline to 36 months
Age at Initiation of Duchenne Muscular Dystrophy-Targeted Pharmacologic Treatment
Time frame: Baseline to 36 months
Percentage of Participants With a Neurobehavioral Diagnosis
Time frame: Baseline to 36 months
Age at First Neurobehavioral Diagnosis
Time frame: Baseline to 36 months
Mean Change in Duchenne Muscular Dystrophy Caregiver Reported Health Index Short Form (DMD-HI-SF) Score
Time frame: Baseline to 36 months
Baseline North Star Ambulatory Assessment (NSAA) Total Score at Age 3 Years
Time frame: Baseline to 36 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Aug 2026.
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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.
4 sites 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 (DMD), run by University of Rochester at 4 sites 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 4 inclusion and 4 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: looking for participants now, as of the sponsor's last update on 19 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 4 sites 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Kimberly A Hart, MA (585-275-3767, Kim_Hart@urmc.rochester.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Mean Change in Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley-4) Gross Motor Standard Score (time frame: Baseline to 36 months). 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 19 Aug 2026; AzTrials last refreshed its copy on 6 Nov 2026.