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The ORIGIN-FH Study for Familial Hypercholesterolemia

The ORIGIN-FH Study aims to identify different types of Familial Hypercholesterolemia (FH) in infants and newborns. FH is a genetic condition that causes high cholesterol. This study involves expectant parents, aged 18 or older, who have FH. You would provide five blood samples for screening and a cheek swab for genetic testing. The main goal is to see how many newborns are diagnosed with either homozygous FH (HoFH) or heterozygous FH (HeFH) after two years. The study status is currently unclear, and it plans to enroll 70 participants.

Study design
This is an interventional study, meaning participants will receive a specific intervention (screening for FH). It is a two-phase cohort study, but the specific phase is not mentioned.
What's involved
You would undergo a cheek swab for genetic testing and have five blood samples collected. You can expect to be in the trial for two years.
Compensation
Not stated in the trial record.
Follow-up
The primary endpoints are measured at two years, indicating a follow-up period of two years for newborns.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT07470723

The ORIGIN-FH Study

Recruiting
NAAges 18+InterventionalDiagnostic
University of Wisconsin, Madison
~70 participants
Updated 2026-03-13 on ClinicalTrials.gov
What's tested:Screening for FH

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Number of diagnostically confirmed HoFH newborns born to expectant parent partnerships where one or both partners have phenotypic HoFH or HeFH.
Measured over 2 years
+1 more outcome measured

Conditions

Heterozygous Familial Hypercholesterolemia (HeFH)
Homozygous Familial Hypercholesterolemia (HoFH)
Familial Hypercholesterolemia

Explore related trials

Familial hypercholesterolemia - heterozygousFamilial hypercholesterolemia - homozygousHyperlipoproteinemia, Type IIa

NCT07470723

Where you'd take part

This study runs at 1 site. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.

  • University of Wisconsin - Madison

    Madison, Wisconsinstudy coordinator listed

    Recruiting

Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.

Study leadership

  • Amy Peterson, MD, MS · PRINCIPAL_INVESTIGATOR · University of Wisconsin, Madison

Who to contact

Xiao Zhang, PhD
[email protected]
Email the study team

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Eligibility criteria

Inclusion

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.
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

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.

What this trial measures

  • Number of diagnostically confirmed HoFH newborns born to expectant parent partnerships where one or both partners have phenotypic HoFH or HeFH.2 years
  • Number of diagnostically confirmed HeFH newborns born to expectant parent partnerships where one or both partners have phenotypic HoFH or HeFH.2 years