The Baby Duchenne Study: Characterizing Developmental and Clinical Outcomes in the First Three Years in Children With Duchenne Muscular Dystrophy (BABY DUCHENNE)

April 27, 2026 updated by: Bo Hoon Lee, University of Rochester
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 Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Recruiting

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Estimated)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
105

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.

Study Locations

  • United States
    • New York
      • Rochester, New York, United States, 14618
        • Recruiting
        • University of Rochester

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

  • Child

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Males with genetically confirmed diagnosis of DMD (Duchenne Muscular Dystrophy)

Description

Inclusion Criteria:

  • 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.

Exclusion Criteria:

  • 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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort

Group / Cohort

A group or subgroup of participants in an observational study that is assessed for biomedical or health outcomes.
Boys (0-3) of age diagnosed with DMD via new born screening

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
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.
Baseline to 36 months

Secondary Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Measure Description
Time Frame
Mean Change in Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley-4) Cognitive Standard Score
Time Frame: Baseline to 36 months
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.
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
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.
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
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.
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
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.
Baseline to 36 months
Mean Change in World Health Organization Motor Milestone (WHOMM) Checklist Score
Time Frame: Baseline to 36 months
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.
Baseline to 36 months
Percentage of Participants Receiving Early Intervention Services
Time Frame: Baseline to 36 months
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.
Baseline to 36 months
Age at Initiation of Early Intervention Services
Time Frame: Baseline to 36 months
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.
Baseline to 36 months
Percentage of Participants Initiating Duchenne Muscular Dystrophy-Targeted Pharmacologic Treatment
Time Frame: Baseline to 36 months
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.
Baseline to 36 months
Age at Initiation of Duchenne Muscular Dystrophy-Targeted Pharmacologic Treatment
Time Frame: Baseline to 36 months
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.
Baseline to 36 months
Percentage of Participants With a Neurobehavioral Diagnosis
Time Frame: Baseline to 36 months
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.
Baseline to 36 months
Age at First Neurobehavioral Diagnosis
Time Frame: Baseline to 36 months
This outcome records the age (in months) at which each participant received their first neurobehavioral diagnosis, as determined by caregiver report or medical record.
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
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.
Baseline to 36 months
Baseline North Star Ambulatory Assessment (NSAA) Total Score at Age 3 Years
Time Frame: Baseline to 36 months
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.
Baseline to 36 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
University of Rochester

Collaborators

Collaborators

An organization other than the sponsor that provides support for a clinical study. This support may include activities related to funding, design, implementation, data analysis, or reporting.
United States Department of Defense

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Estimated)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
May 30, 2026

Primary Completion (Estimated)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
August 31, 2029

Study Completion (Estimated)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
August 31, 2029

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
July 22, 2025

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
July 22, 2025

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
July 30, 2025

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
May 4, 2026

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
April 27, 2026

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
April 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • STUDY00009939
  • US Department of Defense (Other Identifier: US Army Medical Research Acquisition Activity)

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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