Natural History of Disorders Screenable in the Newborn Period (R01 Clinical Trial Optional)
Study the natural history of newborn screening disorders to improve treatment, genetic understanding, and outcomes for infants.
Funder: National Institutes of Health
Due Dates: June 5, 2025 (New) | July 5, 2025 (Renewal/Resubmission/Revision) | October 5, 2025 (New) | November 5, 2025 (Renewal/Resubmission/Revision) | February 5, 2026 (New) | March 5, 2026 (Renewal/Resubmission/Revision) | June 5, 2026 (New) | July 5, 2026 (Renewal/Resubmission/Revision) | October 5, 2026 (New) | November 5, 2026 (Renewal/Resubmission/Revision) | February 5, 2027 (New) | March 5, 2027 (Renewal/Resubmission/Revision) | June 5, 2027 (New) | July 5, 2027 (Renewal/Resubmission/Revision) | October 5, 2027 (New) | November 5, 2027 (Renewal/Resubmission/Revision)
Funding Amounts: No budget cap; budgets must reflect actual project needs. Maximum project period: 5 years.
Summary: Supports research to expand knowledge of the natural history of disorders that are or may become part of newborn screening programs, to inform interventions and improve outcomes.
Key Information: Applicants requesting ≥$500,000 in direct costs in any year must contact NIH program staff at least 6 weeks before submission.
Description
This NIH opportunity invites R01 research project applications to study the natural history of disorders that are currently, or may become, part of statewide newborn screening programs. The goal is to generate comprehensive data on disease progression, symptom development, genotype-phenotype correlations, and modifying factors (genetic, epigenetic, environmental) to inform clinical care, facilitate clinical trials, and support the addition of new conditions to screening panels.
Research supported under this program will help:
- Identify underlying biological mechanisms of screened disorders.
- Understand genetic and clinical heterogeneity and phenotypic expression.
- Improve diagnostic accuracy and clinical decision-making.
- Facilitate clinical trials by providing robust natural history data.
- Prevent, manage, and treat symptoms and complications.
- Support physicians and families with predictive information.
- Establish or enhance data collection systems or patient registries for longitudinal follow-up.
Projects may focus on a single disorder or multiple conditions, including but not limited to inborn errors of metabolism, lysosomal storage disorders, hemoglobinopathies, congenital immunodeficiencies, mitochondrial disorders, neuromuscular disorders, and genetic/epigenetic syndromes.
