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

Launched by UNIVERSITY OF ROCHESTER · Jul 22, 2025

Keywords

ClinConnect Summary

The Baby Duchenne Study is a research project that aims to learn more about how Duchenne muscular dystrophy (DMD) affects very young boys from birth up to three years old. DMD is a genetic condition that causes muscle weakness, and this study wants to understand how the disease develops and impacts children during these early years, especially those identified through newborn screening programs.

This study is looking for boys who are newborns up to three years old and who have a confirmed diagnosis of DMD based on genetic testing. Parents or guardians must be able to give permission for their child to join and agree to bring the child to regular study visits. Participants will be closely followed over time to track their development and health, helping doctors learn more about the early signs and progression of DMD. This information could improve care and support for families affected by this condition. It’s important to note that girls and children with other genetic or serious medical conditions that might affect development are not eligible to participate.

Gender

MALE

Eligibility 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 following a positive newborn screen.
• • 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.