ORIGIN-FH: Newborn screening to detect familial high cholesterol

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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.
* Parent and newborn live outside of the United States.

Where it's running

• 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

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• CTX310 for refractory high triglycerides or LDL cholesterol

  This trial will test whether a single IV dose of CTX310 is safe and tolerated in adults whose high triglycerides or LDL cholesterol have not responded to available treatments.

  Recruiting at 16 sites Phase 1 CRISPR Therapeutics · Hialeah, Florida and 16 other locations · NCT07491172

• EDP167 dose testing for homozygous familial hypercholesterolemia

  This trial tests whether two injections of an siRNA drug called EDP167 can lower ANGPTL3 and improve lipid levels in adults with homozygous familial hypercholesterolemia (HoFH).

  Recruiting Phase 2 Eddingpharm (Zhuhai) Co., Ltd. · Beijing · NCT07489209

• SYH2053 Injection for adults with heterozygous familial hypercholesterolemia

  A phase 3 trial tests whether SYH2053 injection, added to standard diet and statin therapy, can lower LDL cholesterol in adults with HeFH compared with placebo.

  Recruiting Phase 3 CSPC Zhongnuo Pharmaceutical (Shijiazhuang) Co., Ltd. · Beijing, Beijing Municipality · NCT07465263

• Intensifying lipid-lowering with evinacumab to reduce coronary plaque in homozygous familial hypercholesterolemia

  This project will test whether adding evinacumab to existing lipid-lowering therapy can shrink or slow coronary plaque buildup in people with homozygous familial hypercholesterolemia using CCTA imaging.

  Recruiting at 13 sites Fondazione SISA (Societa Italiana per lo Studio della Arteriosclerosi) · Paris and 12 other locations · NCT07447648

• Coronary Plaque Progression in HeFH: DESTINY-FH

  This study tests how heart arteries change over 5 years in people with heterozygous familial hypercholesterolemia using coronary CT angiography.

  Recruiting Assistance Publique - Hôpitaux de Paris · Paris and 2 other locations · NCT07427472

• Enlicitide decanoate (MK-0616), an oral PCSK9 inhibitor, for children and adolescents with heterozygous familial hypercholesterolemia

  This trial tests whether a daily oral medicine called enlicitide decanoate can safely lower LDL cholesterol in children and teens with heterozygous familial hypercholesterolemia.

  Recruiting at 48 sites Phase 2/3 Merck Sharp & Dohme LLC · Wilmington, Delaware and 47 other locations · NCT07058077

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.