Actively Recruiting
Opportunity to Reach Individuals With Genetic Dyslipidemia During Infancy and the Newborn Period to Find Familial Hypercholesterolemia
Led by University of Wisconsin, Madison · Updated on 2026-03-13
70
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are conducting the ORIGIN-FH study to identify different types of Familial Hypercholesterolemia (FH) in newborns and infants. This two-phase cohort study focuses on expectant parents where one or both partners have diagnosed or suspected heterozygous or homozygous FH. The goal is to prospectively screen and diagnose their newborns with HoFH, HeFH, or determine if they are unaffected by FH. Participants will provide cheek swabs for genetic testing (parents only) and newborns will have five blood samples collected for FH screening. The study will enroll newborns who meet specific inclusion criteria and will monitor their lipid profiles over time. The study spans two years, during which newborns will be screened and diagnosed for FH types. Throughout the two-year participation, researchers will collect blood samples and monitor cholesterol and lipoprotein levels at one month and two years of age. Outcomes include the number of diagnostically confirmed HoFH and HeFH newborns and changes in lipid markers such as LDL cholesterol, total cholesterol, apolipoprotein B, and lipoprotein A. Participants will comply with study procedures and may use local laboratory services or mobile phlebotomy for infant blood collections.
CONDITIONS
Brief Title
The ORIGIN-FH Study
Who Can Participate
Eligibility Criteria
You may qualify if you...
- 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 at least 12 weeks gestation where one or both partners have been diagnosed with possible or definite HoFH or HeFH based on Dutch Lipid Clinic Network 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; both parents are invited.
- Parent(s) commit to using local laboratory services for infant blood samples or mobile phlebotomy if available.
- Newborn does not have any congenital abnormalities or medical conditions that may interfere with collection of dried blood spot specimen.
- Newborn does not require admission to neonatal intensive care unit.
You will not qualify if you...
- 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 dried blood spot specimen collection.
- Newborn's dried blood spot specimen is not collected by 1 week of age.
- Not suitable for study participation due to other reasons at the discretion of the investigators.
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
5 blood sample collections for screening
Duration - Up to 2 years
Newborns of eligible expectant parents are prospectively screened and diagnosed for familial hypercholesterolemia (FH).
Blood samples collected from newborns using local laboratory services or mobile phlebotomy
Trial Site Locations
Total: 1 location
1
University of Wisconsin - Madison
Madison, Wisconsin, United States, 53792
Actively Recruiting
Research Team
X
Xiao Zhang, PhD
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
DIAGNOSTIC
Number of Arms
1
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