Heterozygous Familial Hypercholesterolemia (HeFH)ORIGIN-FHNCT07470723
The ORIGIN-FH Study
A study testing Screening for FH in people with Heterozygous Familial Hypercholesterolemia (HeFH) and Homozygous Familial Hypercholesterolemia (HoFH), run by University of Wisconsin, Madison at 1 site in United States.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Heterozygous Familial Hypercholesterolemia (HeFH), Homozygous Familial Hypercholesterolemia (HoFH), Familial Hypercholesterolemia
- What is being tested?
- Screening for FH
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 70 participants
- Where
- 1 siteUnited States
- Study dates
- 14 Feb 2026to 14 Feb 2029
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- 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.
Who cannot join
- 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.
- Parent and newborn live outside of the United States.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Xiao Zhang, PhD contact
United States1 site, 1 recruiting
- Recruiting
University of Wisconsin - Madison
Madison, Wisconsin, 53792
Xiao Zhang, PhD, xiao.zhang@wisc.edu
About this study
Official title: 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.
Read the 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.
- Conditions
- Heterozygous Familial Hypercholesterolemia (HeFH), Homozygous Familial Hypercholesterolemia (HoFH), Familial Hypercholesterolemia
- Being tested
- Screening for FH
- Keywords
- cholesterol, newborn screening, pediatric, infant
- Medical subject headings
- Homozygous Familial Hypercholesterolemia, Hyperlipoproteinemia Type II
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Screening for FHDiagnostic test
Participants will provide 5 blood samples for screening for FH.
| Study group | Role | What they receive |
|---|---|---|
| Newborns | Experimental | Newborns screened for FH Receives: Diagnostic Test: Screening for FH |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of diagnostically confirmed HoFH newborns born to expectant parent partnerships where one or both partners have phenotypic HoFH or HeFH.
Measured: 2 years
Number of diagnostically confirmed HeFH newborns born to expectant parent partnerships where one or both partners have phenotypic HoFH or HeFH.
Measured: 2 years
Secondary outcomes (4)
Differences in Low Density Lipoprotein Cholesterol (LDL-C)
LDL-C will be measured and compared between newborns with HeFH/HoFH and those not affected by FH.
Measured: 1 month, 2 years
Differences in Total Cholesterol (TC)
TC will be measured and compared between newborns with HeFH/HoFH and those not affected by FH.
Measured: 1 month, 2 years
Differences in Apolipoprotein B (apoB)
ApoB will be measured and compared between newborns with HeFH/HoFH and those not affected by FH.
Measured: 1 month, 2 years
Differences in Lipoprotein A (Lp(a))
Lp(a) will be measured and compared between newborns with HeFH/HoFH and those not affected by FH.
Measured: 1 month, 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Mar 2026
- Study start14 Feb 2026
- Primary completion14 Feb 2029 (estimated)
- Study completion14 Feb 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Heterozygous Familial Hypercholesterolemia (HeFH)Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 70 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Wisconsin, Madison
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Amy Peterson, MD, MS, Principal investigator, University of Wisconsin, Madison
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07470723
- Sponsor's protocol ID
- 2025-1084
- Other IDs
- UWMSN | SMPH | Pediatrics - Ca, Protocol Version 2/24/26
- Acronym
- ORIGIN-FH
- Status last verified
- Feb 2026
- First submitted
- 9 Mar 2026
- Last updated
- 13 Oct 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 13 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Opportunity to Reach Individuals With Genetic Dyslipidemia During Infancy and the Newborn Period to Find Familial Hypercholesterolemia
- ClinicalTrials.gov ID
- NCT07470723
- Acronym / sponsor ID
- ORIGIN-FH / 2025-1084
- Conditions
- Heterozygous Familial Hypercholesterolemia (HeFH), Homozygous Familial Hypercholesterolemia (HoFH), Familial Hypercholesterolemia
- Keywords
- cholesterol, newborn screening, pediatric, infant
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 70 participants (estimated)
- Lead sponsor
- University of Wisconsin, MadisonUniversity, hospital or other
- Study start
- 14 Feb 2026 (actual)
- Primary completion
- 14 Feb 2029 (estimated)
- Study completion
- 14 Feb 2029 (estimated)
- First posted
- 13 Mar 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Newborns | Experimental | Diagnostic Test: Screening for FHNewborns screened for FH |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (6 listed)
- 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.
Key exclusion criteria (5 listed)
- 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.
- Parent and newborn live outside of the United States.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Screening for FHParticipants will provide 5 blood samples for screening for FH. | Diagnostic test | Newborns |
Primary outcome
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
4 secondary outcomes
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Oct 2026.
- Individual participant dataSharing planned: Yes
Related trials for Heterozygous Familial Hypercholesterolemia (HeFH)
Not yet recruitingPhase 1/2
EDIT-401 in Adults Who Require Additional Lowering of Low-Density Lipoprotein Cholesterol (LDL-C)
Heterozygous Familial Hypercholesterolemia (HeFH)
RecruitingPhase 2/3
A Study of Enlicitide Decanoate (MK-0616, an Oral PCSK9 Inhibitor) in Children and Adolescents With Heterozygous Familial Hypercholesterolemia (MK-0616-029)
Heterozygous Familial Hypercholesterolemia (HeFH)
RecruitingPhase 1
A Safety and Tolerability Trial Evaluating CTX310 in Participants With Refractory Dyslipidemias
Cardiovascular, Metabolic Disease
RecruitingPhase 3
Long-term Safety and Tolerability of Inclisiran in Participants With HeFH or HoFH Who Have Completed the Pediatric ORION-16, ORION-13, ORION-20, or ORION-19 Studies
Heterozygous or Homozygous Familial Hypercholesterolemia
Not yet recruitingPhase 3
Long-Term Efficacy and Safety of Lerodalcibep in Children and Adolescents With Familial Hypercholesterolemia
Heterozygous Familial Hypercholesterolemia (HeFH)
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Xiao Zhang, PhD contact
Amy Peterson, MD, MS principal investigator
University of Wisconsin, Madison
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Screening for FH in people with Heterozygous Familial Hypercholesterolemia (HeFH) and Homozygous Familial Hypercholesterolemia (HoFH), run by University of Wisconsin, Madison at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 13 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Xiao Zhang, PhD (xiao.zhang@wisc.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 13 Oct 2026.