Early Check: Expanded Screening in Newborns (NCT03655223) | Clinical Trial Compass
Active — Not RecruitingNot Applicable
Early Check: Expanded Screening in Newborns
United States30,000 participantsStarted 2018-10-15
Plain-language summary
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.
Who can participate
Age range
1 Day – 31 Days
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1My newborn was recently diagnosed with one of the conditions listed in this Early Check study — is it worth asking whether participating in expanded newborn screening research could provide any additional information about their specific condition, or is it too late since they're already diagnosed?
2Since this study is listed as 'active, not recruiting,' does that mean my baby can no longer enroll, and are there similar expanded newborn screening programs currently accepting participants that you'd recommend we look into?
3This trial is measuring how often newborns screen positive across a very large list of conditions — does that mean the results are more about improving future screening tools than directly benefiting my child, and how should that affect whether we'd consider participating?
4Some of the conditions on this list, like Fragile X premutation or certain metabolic disorders, can also have implications for the parents or siblings — if my newborn were screened through this study, would any findings about our family's genetic risk be shared with us, and how would you help us navigate that information?
5Given that this is listed as Phase NA, meaning it's a screening and observational study rather than a treatment trial, what would actually happen after a positive screen — would my baby be connected to treatment right away, or would there be additional steps before any medical intervention?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Incidence Rates: Number of newborns who screen positive comparative to the whole sample
Timeframe: Every 6 months for approximately three years