Natural History of Disorders Screenable in the Newborn Period (R01 Clinical Trial Optional)

This Notice of Funding Opportunity (NOFO) encourages applications that will expand knowledge of the natural history of disorders that currently are, or may become, part of statewide newborn screening programs. A comprehensive understanding of the natural history of a condition is necessary to facilitate appropriate interventions for infants identified by newborn screening. Characterization of the sequence and timing of symptom development provides information crucial for developing targeted, age-appropriate treatments and for establishing a baseline against which to assess novel interventions. The program aims to establish genotype-phenotype correlations and identify modifying genetic, epigenetic, or environmental factors to enhance understanding of clinical outcomes. Comprehensive data will facilitate identifying underlying biological mechanisms, understanding genetic and clinical heterogeneity, improving diagnostic accuracy, facilitating clinical trials, managing and treating symptoms, furnishing physicians and families with predictive information, and establishing data collection systems or patient registries to collect longitudinal data on child and family outcomes following newborn screening.