Overview
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.
Eligibility
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.
