Baby Duchenne: Tracking development in boys with Duchenne muscular dystrophy during their first three years
The Baby Duchenne Study: Characterizing Developmental and Clinical Outcomes in the First Three Years in Children With Duchenne Muscular Dystrophy
This project will follow boys with Duchenne muscular dystrophy found by newborn screening to see how they grow and develop from birth through age three.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 105 (estimated) |
| Ages | 0 Days to 3 Years |
| Sex | Male |
| Sponsor | University of Rochester Academic / other |
| Locations | 1 site (Rochester, New York) |
| Trial ID | NCT07092540 on ClinicalTrials.gov |
What this trial studies
The Baby Duchenne study follows male infants and toddlers with a confirmed pathogenic or likely pathogenic DMD gene variant, identified through newborn screening, to document early clinical and developmental outcomes from birth to age three. Parents provide consent and bring the child to scheduled study visits where clinicians collect developmental measures, medical history, physical exams, and other relevant clinical data. The protocol is observational with no experimental treatments, aiming to build a detailed natural-history dataset that can inform clinical care and the design of future trials. Collected data will help define early milestones, onset timing of symptoms, and potential early markers of disease progression.
Who should consider this trial
Good fit: Male children from birth up to three years old with a confirmed pathogenic or likely pathogenic DMD gene variant whose parent or guardian can provide written consent and attend scheduled study visits.
Not a fit: Girls, children with other genetic or significant medical conditions that could affect development, and families unable to provide consent or comply with study visits are not expected to benefit from this observational protocol.
Why it matters
Potential benefit: If successful, this work could help clinicians recognize early signs of Duchenne, guide when to start treatments, and inform newborn screening and care recommendations.
How similar studies have performed: Prior natural-history studies have characterized DMD progression in older children, but prospective cohorts identified through newborn screening and focused on infancy are limited, making this early-life approach relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
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.
Where this trial is running
Rochester, New York
- University of Rochester — Rochester, New York, United States (Recruiting)
Study contacts
- Study coordinator: Kimberly A Hart, MA
- Email: Kim_Hart@urmc.rochester.edu
- Phone: 585-275-3767
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.