NCT07470723 · University of Wisconsin, Madison
The ORIGIN-FH Study
(ORIGIN-FH)
What this study is about
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.
View original scientific description
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.
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
Who can participate
This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.
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.
Where
- Madison, Wisconsin
Related conditions & keywords
Frequently asked questions
What is a clinical trial?
A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.
Is it safe to participate?
Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.
Will I be compensated?
Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.
Will I receive a placebo instead of treatment?
When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.
Can I leave a trial if I change my mind?
Absolutely. Participation in clinical trials is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty or loss of benefits to which you are otherwise entitled.
How long does a clinical trial last?
Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.
Data: ClinicalTrials.gov · synced Mar 13, 2026 · Source of record for eligibility and locations