ORIGIN-FH: Newborn screening to detect familial high cholesterol
Opportunity to Reach Individuals With Genetic Dyslipidemia During Infancy and the Newborn Period to Find Familial Hypercholesterolemia
This project will test a genetic cheek swab of parents plus blood screening of newborns to find familial high cholesterol in babies born to parents with familial hypercholesterolemia.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 70 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | University of Wisconsin, Madison Academic / other |
| Locations | 1 site (Madison, Wisconsin) |
| Trial ID | NCT07470723 on ClinicalTrials.gov |
What this trial studies
ORIGIN-FH is a two-phase prospective cohort that enrolls expectant parents when one or both partners have phenotypic or genotypic familial hypercholesterolemia to screen their newborns. Parent participants provide a cheek swab for genetic testing and newborns undergo serial blood sampling (five samples) across approximately two years. The study aims to diagnose homozygous FH, heterozygous FH, or no FH in the infant using genetic and biochemical data. Enrollment and coordination are conducted through the University of Wisconsin–Madison with local laboratory or mobile phlebotomy options for infant blood draws when available.
Who should consider this trial
Good fit: Ideal candidates are expectant parents (≥18 years) where at least one partner has possible or definite heterozygous or homozygous familial hypercholesterolemia and who are willing to consent, provide a parental cheek swab, and commit to infant blood draws and follow-up for about two years.
Not a fit: Newborns from families without a parental FH diagnosis, infants with excluded congenital conditions, or families unwilling/unable to complete the required follow-up are unlikely to benefit from this screening protocol.
Why it matters
Potential benefit: If successful, earlier and accurate diagnosis of FH in newborns could allow prompt monitoring and earlier management to reduce long-term cardiovascular risk.
How similar studies have performed: Family-based genetic cascade screening for familial hypercholesterolemia has identified affected relatives in prior work, but systematic newborn-targeted screening programs are less established.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria - parent participant: * Individuals in the expectant partnership providing informed consent are at least 18 years of age. * Ability to understand and willingness to sign a written informed consent document. * Willingness to comply with all study procedures and be available for the duration of the study. * Expectant parent (currently pregnant with fetus ≥12 weeks gestation) where one or both partners have been diagnosed with possible or definite HoFH or HeFH based on Dutch Lipid Clinic Network (DLCN) or confirmed diagnosis from a healthcare provider. At minimum, at least one parent with HoFH or HeFH must be willing to consent to study participation. However, both parents will be invited to participate. * Parent(s) commit to using local laboratory services for infant blood samples, with mobile phlebotomy used as an alternative if available in their area. Inclusion Criteria - newborn participant: * Newborn does not have any congenital abnormalities or medical conditions that may interfere with collection of dried blood spot (DBS) specimen and newborn does not require admission to neonatal intensive care unit. Exclusion Criteria - parent and newborn participants: * Expectant partnership where neither partner meets diagnostic criteria for HeFH or HoFH. * Parent refuses consent for newborn's study participation. * Newborn has medical condition precluding DBS specimen collection, or a newborn's DBS specimen is not collected by 1 week of age. * Not suitable for study participation due to other reasons at the discretion of the investigators.
Where this trial is running
Madison, Wisconsin
- University of Wisconsin - Madison — Madison, Wisconsin, United States (Recruiting)
Study contacts
- Principal investigator: Amy Peterson, MD, MS — University of Wisconsin, Madison
- Study coordinator: Xiao Zhang, PhD
- Email: xiao.zhang@wisc.edu
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.