The ORIGIN-FH Study (ORIGIN-FH)

March 9, 2026 updated by: University of Wisconsin, Madison

Opportunity to Reach Individuals With Genetic Dyslipidemia During Infancy and the Newborn Period to Find Familial Hypercholesterolemia

The goal of this clinical trial is to identify different types of Familial Hypercholesterolemia (FH) in infants and newborns. Participants will:

  • undergo a cheek swab for genetic testing (parents only)
  • have 5 blood samples collected

Participants can expect to be in the trial for 2 years.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Detailed Description

ORIGIN-FH is a two-phase cohort study that will identify and enroll expectant parents where one or both partners has phenotypic and/or genotypic familial hypercholesterolemia in order to prospectively screen and diagnose their newborns with HoFH, HeFH, or are unaffected by FH.

Study Type

Interventional

Enrollment (Estimated)

70

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • United States
    • Wisconsin
      • Madison, Wisconsin, United States, 53792
        • Recruiting
        • University of Wisconsin - Madison
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Diagnostic
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: Newborns
Newborns screened for FH
Diagnostic test: Screening for FH
Participants will provide 5 blood samples for screening for FH.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Number of diagnostically confirmed HoFH newborns born to expectant parent partnerships where one or both partners have phenotypic HoFH or HeFH.
Time Frame: 2 years
2 years
Number of diagnostically confirmed HeFH newborns born to expectant parent partnerships where one or both partners have phenotypic HoFH or HeFH.
Time Frame: 2 years
2 years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Differences in Low Density Lipoprotein Cholesterol (LDL-C)
Time Frame: 1 month, 2 years
LDL-C will be measured and compared between newborns with HeFH/HoFH and those not affected by FH.
1 month, 2 years
Differences in Total Cholesterol (TC)
Time Frame: 1 month, 2 years
TC will be measured and compared between newborns with HeFH/HoFH and those not affected by FH.
1 month, 2 years
Differences in Apolipoprotein B (apoB)
Time Frame: 1 month, 2 years
ApoB will be measured and compared between newborns with HeFH/HoFH and those not affected by FH.
1 month, 2 years
Differences in Lipoprotein A (Lp(a))
Time Frame: 1 month, 2 years
Lp(a) will be measured and compared between newborns with HeFH/HoFH and those not affected by FH.
1 month, 2 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University of Wisconsin, Madison

Investigators

  • Principal Investigator: Amy Peterson, MD, MS, University of Wisconsin, Madison

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

February 14, 2026

Primary Completion (Estimated)

February 14, 2029

Study Completion (Estimated)

February 14, 2029

Study Registration Dates

First Submitted

March 9, 2026

First Submitted That Met QC Criteria

March 9, 2026

First Posted (Actual)

March 13, 2026

Study Record Updates

Last Update Posted (Actual)

March 13, 2026

Last Update Submitted That Met QC Criteria

March 9, 2026

Last Verified

February 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 2025-1084
  • UWMSN | SMPH | Pediatrics - Ca (Other Identifier: UW- Madison)
  • Protocol Version 2/24/26 (Other Identifier: UW Madison)

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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