# Early Check: A Collaborative Innovation to Facilitate Pre-Symptomatic Clinical Trials in Newborns

> **NIH NIH U01** · RESEARCH TRIANGLE INSTITUTE · 2020 · $1,557,041

## Abstract

PROJECT SUMMARY/ABSTRACT
Newborn screening (NBS) is designed for pre-symptomatic identification of serious conditions for which there
are effective treatments that must begin early. Central to NBS policy is evidence that pre-symptomatic
treatment is more effective than treatment after symptoms appear. Unfortunately, such evidence is difficult to
amass because most nominated conditions are rare and the effort required to identify pre-symptomatic
infants for clinical trials is substantial. Researchers and advocates find themselves in a classic “Catch 22”
situation—NBS cannot happen without sufficient evidence, but gathering this evidence necessarily requires
large-scale population screening. This problem is such a formidable barrier to translational research that
many disorders will never have the evidence needed to justify inclusion in NBS programs.
We propose to develop and implement Early Check—a research program in which voluntary screening for a
panel of conditions is offered on a statewide basis. Early Check would allow rapid screening for new
candidate conditions, advance understanding of early disease, and facilitate registry and clinical trial
recruitment. We will build and implement an experimental research program with an ongoing evaluation
component in which we revise and improve the program as we learn from our implementation experiences
and engagement with the general public and families directly affected by screening.
Once we have finalized all aspects of the program, we will offer screening for a gradually expanding set of
conditions to all 120,000 birthing families per year in North Carolina. Our first condition offered for screening
will be spinal muscular atrophy, a life-threatening degenerative motor neuron disorder. We will determine
participation rates; conduct screening; return results; provide counseling and clinical services; support
families in caregiving decisions; inform families of ongoing clinical trials; provide support for families in
deciding whether they want to participate in a clinical trial; and follow children and families over time to study
benefits, harms, and psychosocial outcomes of screening. We will seek external funds to expand Early
Check to other candidate disorders, such as fragile X syndrome. Implementation data will be used to refine
the process, inform replication, and establish an infrastructure for testing other candidate conditions. To
achieve long-term viability, we will develop a model of public-private partnerships based on collaborative
engagement with federal agencies, foundations, patient advocacy groups, and industry.

## Key facts

- **NIH application ID:** 9975249
- **Project number:** 5U01TR001792-05
- **Recipient organization:** RESEARCH TRIANGLE INSTITUTE
- **Principal Investigator:** Donald B Bailey
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $1,557,041
- **Award type:** 5
- **Project period:** 2016-09-15 → 2022-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9975249

## Citation

> US National Institutes of Health, RePORTER application 9975249, Early Check: A Collaborative Innovation to Facilitate Pre-Symptomatic Clinical Trials in Newborns (5U01TR001792-05). Retrieved via AI Analytics 2026-06-01 from https://api.ai-analytics.org/grant/nih/9975249. Licensed CC0.

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