The ORIGIN-FH Study
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Screening for FH.
- Who it may be relevant to
- Registry conditions: Heterozygous Familial Hypercholesterolemia (HeFH), Homozygous Familial Hypercholesterolemia (HoFH), Familial Hypercholesterolemia. Basic parameters: from 18 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Opportunity to Reach Individuals With Genetic Dyslipidemia During Infancy and the Newborn Period to Find Familial Hypercholesterolemia
Overview
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.
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.
Interventions
- Diagnostic test Screening for FH
Participants will provide 5 blood samples for screening for FH.
Primary outcome measures
- 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]
- 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]
Secondary outcome measures (4)
- Differences in Low Density Lipoprotein Cholesterol (LDL-C) [Time frame: 1 month, 2 years]
- Differences in Total Cholesterol (TC) [Time frame: 1 month, 2 years]
- Differences in Apolipoprotein B (apoB) [Time frame: 1 month, 2 years]
- Differences in Lipoprotein A (Lp(a)) [Time frame: 1 month, 2 years]
Eligibility 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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Allocation
- N/A
- Model
- Single group
- Masking
- Open label
- Primary purpose
- Diagnostic
Study locations
United States · 1 center
- University of Wisconsin - Madison — Madison
Identifiers
NCT: NCT07470723 · 2025-1084 · UWMSN | SMPH | Pediatrics - Ca · Protocol Version 2/24/26