Early Check research study

Funding agency	National Institutes of Health
Objective	Screen newborn babies for rare health conditions
Location	North Carolina
Project coordinator	RTI International
Duration	2018 –
Website	https://earlycheck.org/

The Early Check research study screens babies born in North Carolina for fragile X syndrome and spinal muscular atrophy, two rare but serious health conditions. The study offers free, elective extra screening tests using the same neonatal heel prick blood sample taken from babies for regular newborn screening. The overarching goal of Early Check is to identify newborn babies with rare health conditions, find new treatments, and develop an evidence pipeline that can inform policy decisions made by the U.S. Department of Health and Human Services (HHS) Secretary’s Committee on Heritable Diseases. This committee reviews the evidence on treatment effectiveness for conditions that become eligible for state newborn screening panels across the United States. Through Early Check, affected babies and their families will receive a diagnosis early, thereby opening up the possibilities for effective treatment.

The study is funded by the National Institutes of Health, National Center for Advancing Translational Sciences and the Eunice Kennedy Shriver National Institute of Child Health and Human Development; The John Merck Fund; CureSMA; and Asuragen.

Study purpose

Early Check is a research study that offers voluntary and expanded newborn screening to all babies born in North Carolina. The study aims to identify children with rare health conditions before symptoms appear, and to look at the benefits of early treatments. Participation in the study and expanded testing is offered free of charge. However, mothers must sign up on the study website to give their permission for the additional screenings.

Differences between early check and routine newborn screening

Babies born in North Carolina are routinely tested at birth for more than 30 rare but serious health conditions as part of a public health service called newborn screening. Early Check screens for other health conditions not included in regular newborn screening and offers parents the opportunity to screen their babies for selected additional rare conditions. Early Check screening uses the same blood sample taken from babies for regular newborn screening.

Differences between Early Check and regular newborn screening

	Early Check	Regular newborn screening
Parents must give permission for their baby to be screened	Yes	No
There are treatments for babies with the health problems that can greatly improve their symptoms	Maybe*	Yes
Type of program	Research	Public Health
*There are no cures for these health problems but there are things that may help. Researchers are looking for better treatments.

Conditions tested

Early Check offers screening for two rare but serious health conditions:

1. Fragile X Syndrome is the most commonly inherited form of intellectual disability. It affects about 1 in every 5,000 males and 1 in every 8,000 females.
2. Spinal Muscular Atrophy (SMA) is a genetic condition that causes muscle weakness and progressive loss of movement. It affects about 1 in 10,000 newborn babies in the United States.

In the future, Early Check also may screen for other rare health conditions. Early Check selects conditions based on a common set of criteria. Any added conditions will need to be ones that:

• usually begin showing signs and symptoms in childhood;
• are difficult to diagnose early;
• cause serious illness, death, or have a significant impact on families;
• have a low-cost and proven lab test that can be performed on a newborn baby’s dried blood spot sample;
• have follow-up services available for affected children and/or families; and
• have new treatments under development that may be more effective when used very early in a child’s life.

Study process

Outreach

For babies born in North Carolina, parents are invited to join the Early Check research study and have their newborn screened for two additional rare health conditions. Parents can visit the Early Check website or call the research team (1-866-881-2715) for information to help them decide whether signing up for Early Check is right for them and their family.

Health care professionals focusing on pregnancy, delivery, and newborn care will also receive information about the Early Check study to raise awareness about the project.

Parent permission

Parents choose whether to give permission to have the Early Check study screen their newborn for fragile X and SMA by signing up online. New or expecting mothers can sign up for Early Check if they are more than 12 weeks pregnant or have a baby younger than 4 weeks old who was born in North Carolina. Early Check screening tests are usually done when the baby is between 2 and 6 weeks old.

Screening

The Early Check team in cooperation with the North Carolina State Laboratory of Public Health will run the test for the two additional conditions. No extra appointments are needed, and the test is free. Early Check testing uses the same blood sample already collected shortly after birth in the hospital or birthing center for regular newborn screening.

Results

Most parents get their baby's Early Check test results before the baby is 2 months old. Because these two conditions are so rare, nearly all babies tested will have a normal test result. Parents of babies who do not have these conditions will receive an email or text telling them their baby had a normal test result.

If the test result is not normal, a member of the Early Check team will contact the family to schedule another test to confirm or reject the result of the first test. Parents of newborns who receive a test result that is not normal can have their baby examined by a doctor and receive genetic counseling. They are also provided with treatment options and connections to resources for support.

Study rationale

If the Early Check study is successful, it will identify babies with serious health conditions before symptoms appear and pave the way for research to:

• determine the true prevalence of a condition (the number of cases in a population),
• detect patterns in the onset of early symptoms,
• characterize the course that condition takes in people and its variability on how a person functions, and
• test new treatments before symptoms appear.

Ultimately, the study could:

• more rapidly advance understanding of rare health conditions and treatments;
• reduce the length of time for appropriate conditions to be added to the Recommended Uniform Screening Panel (RUSP) for newborns, a list of conditions every baby should be screened for as part of regular newborn screening; and
• accelerate future research on new conditions, including clinical trials conducted with patients to evaluate new treatments.

Identifying newborns for clinical trials

Because most health conditions recommended to be added to the RUSP are rare, the effort required to identify pre-symptomatic infants for clinical trials is substantial. This is such a large barrier to translational research that many conditions will never have the evidence needed to justify being included in the RUSP.

Early Check is designed to eliminate this barrier through a research study that offers voluntary screening on a statewide basis for a panel of health conditions. Early Check will allow rapid screening for new conditions that might be added to the RUSP, advance understanding of early symptoms of disease conditions, and make it easier to recruit people to join a registry or a clinical trial.

Funding and team

Funding for Early Check is provided the National Institutes of Health, National Center for Advancing Translational Sciences and the Eunice Kennedy Shriver National Institute of Child Health and Human Development; The John Merck Fund; CureSMA; and Asuragen.

The study is led by RTI International in partnership with the North Carolina State Laboratory of Public Health, the University of North Carolina at Chapel Hill, Duke University, and the Wake Forest School of Medicine.

External links

• Early Check - official web site

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