Early Check: Expanded Screening in Newborns
Trial Summary
What is the purpose of this trial?
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and families who screen positive, and 3) evaluate the Early Check program. The Early Check screening will lead to earlier identification of newborns with rare health conditions in addition to providing important data on the implementation of this model program. Early diagnosis may result in health and development benefits for the newborns. Infants who have newborn screening in North Carolina will be eligible to participate, equating to over 120,000 eligible infants a year. Over 95% of participants are expected to screen negative. Newborns who screen positive and their parents are invited to additional research activities and services. Parents can enroll eligible newborns on the Early Check electronic Research Portal. Screening tests are conducted on residual blood from existing newborn screening dried blood spots. Confirmatory testing is provided free-of-charge for infants who screen positive, and carrier testing is provided to mothers of infants with fragile X. Affected newborns have a physical and developmental evaluation. Their parents have genetic counseling and are invited to participate in surveys and interviews. Ongoing evaluation of the program includes additional parent interviews.
Research Team
Don Bailey, PhD
Principal Investigator
RTI International
Eligibility Criteria
Inclusion Criteria
Treatment Details
Interventions
- Confirmatory Testing (Diagnostic Test)
Find a Clinic Near You
Who Is Running the Clinical Trial?
RTI International
Lead Sponsor
Dr. Anuja Purohit
RTI International
Chief Medical Officer
MD from Duke University School of Medicine
Tim J. Gabel
RTI International
Chief Executive Officer since 2022
Adjunct appointments at University of Wyoming and UNC Gillings School of Global Public Health
Illumina, Inc.
Industry Sponsor
Janssen Pharmaceuticals
Industry Sponsor
Joaquin Duato
Janssen Pharmaceuticals
Chief Executive Officer since 2022
MBA from ESADE Business School
John (Jack) Lawrence
Janssen Pharmaceuticals
Chief Medical Officer since 2023
MD from University of Virginia School of Medicine
GeneDx
Collaborator
The National Fragile X Foundation
Collaborator
The Leona M. and Harry B. Helmsley Charitable Trust
Collaborator
Sarah E. Paul
The Leona M. and Harry B. Helmsley Charitable Trust
Chief Executive Officer since 2021
Harvard summa cum laude, J.D. from Harvard Law School
Walter Panzirer
The Leona M. and Harry B. Helmsley Charitable Trust
Chief Medical Officer since 2021
MD
Juvenile Diabetes Research Foundation
Collaborator
Dr. Aaron J. Kowalski
Juvenile Diabetes Research Foundation
Chief Executive Officer since 2019
PhD in Microbiology and Molecular Genetics from Rutgers University
Dr. Thomas Danne
Juvenile Diabetes Research Foundation
Chief Medical Officer
MD from Albert Einstein College of Medicine
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Collaborator
Dr. Diana W. Bianchi
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Chief Executive Officer since 2016
MD from Stanford University
Dr. Alison Cernich
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Chief Medical Officer since 2020
PhD in Clinical Psychology from University of Maryland
The John Merck Fund
Collaborator
North Carolina Department of Health and Human Services
Collaborator