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.
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.
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.
University of Rochester
Lead sponsor
United States Department of Defense
Collaborator