Clinical trial · Observational
Early Check: Expanded Screening in Newborns
Early Check: A Collaborative Innovation to Facilitate Pre-Symptomatic Clinical Trials in Newborns
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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.
Conditions
Conditions (185)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| 17 Alpha-Hydroxylase Deficiency | — | UNRESOLVED | — |
| 3-Hydroxy-3-Methylglutaric Aciduria | — | UNRESOLVED | — |
| 3-Hydroxyacyl-CoA Dehydrogenase Deficiency | — | UNRESOLVED | — |
| 3-Methylcrotonyl CoA Carboxylase 1 Deficiency | — | UNRESOLVED | — |
| 3-Methylcrotonyl CoA Carboxylase 2 Deficiency | — | UNRESOLVED | — |
| 3-Phosphoglycerate Dehydrogenase Deficiency | — | UNRESOLVED | — |
| Acrodermatitis Enteropathica | — | UNRESOLVED | — |
| Adenine Phosphoribosyltransferase Deficiency | — | UNRESOLVED |
Interventions
Interventions (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| Confirmatory Testing | Diagnostic Test | — | UNRESOLVED |
Design
Arms and outcomes
Arms (2)
- label
- Newborn infants born in North Carolina
- description
- All newborn infants in North Carolina will have the opportunity to participate in Early Check. Those who screen positive for the conditions identified in the study will be subject to confirmatory testing.
- interventionNames
- Diagnostic Test: Confirmatory Testing
- label
- Birthing Mothers in North Carolina
- description
- All birthing mothers in North Carolina will have the opportunity to participate in Early Check.
Primary outcomes (1)
- measure
- Incidence Rates: Number of newborns who screen positive comparative to the whole sample
- timeFrame
- Every 6 months for approximately three years
- description
- Incidence rates of infants who screen positive for conditions on the Early Check panel.
Secondary outcomes (1)
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 1 Day
- Maximum age
- 31 Days
Show eligibility criteria text
Inclusion Criteria: * Newborn has newborn screening in North Carolina * Newborn lives in North Carolina or South Carolina * Newborn is less than 31 days old * Person giving consent must have legal custody of the newborn. When the mother retains custody, they must be the person to give consent. * Person giving consent must be able to interact with the online permission portal (available in English and Spanish) and give permission online Exclusion Criteria: * A newborn screening (NBS) sample is unavailable for the newborn * Insufficient NBS sample remains to conduct the screening
References
Publications (6)
- BACKGROUNDFinkel, Mercuri, Darras, Kuntz, Kirschner et al, 2017
- BACKGROUNDBirnkrant, et al, 2018
- BACKGROUNDWinarni TI, Schneider A, Borodyanskara M, Hagerman RJ. Early intervention combined with targeted treatment promotes cognitive and behavioral improvements in young children with fragile x syndrome. Case Rep Genet. 2012;2012:280813. doi: 10.1155/2012/280813. Epub 2012 Mar 26. PMID 23074686
- BACKGROUNDBailey, Raspa, Bishop & Holiday, 2009
- DERIVEDGehtland LM, Paquin RS, Andrews SM, Lee AM, Gwaltney A, Duparc M, Pfaff ER, Bailey DB Jr. Using a Patient Portal to Increase Enrollment in a Newborn Screening Research Study: Observational Study. JMIR Pediatr Parent. 2022 Feb 10;5(1):e30941. doi: 10.2196/30941. PMID 35142618
- DERIVEDBailey DB Jr, Gehtland LM, Lewis MA, Peay H, Raspa M, Shone SM, Taylor JL, Wheeler AC, Cotten M, King NMP, Powell CM, Biesecker B, Bishop CE, Boyea BL, Duparc M, Harper BA, Kemper AR, Lee SN, Moultrie R, Okoniewski KC, Paquin RS, Pettit D, Porter KA, Zimmerman SJ. Early Check: translational science at the intersection of public health and newborn screening. BMC Pediatr. 2019 Jul 17;19(1):238. doi: 10.1186/s12887-019-1606-4. PMID 31315600