The ORIGIN-FH Study | NCT07470723

Studies
The ORIGIN-FH Study

NCT07470723

Sponsor

University of Wisconsin, Madison

Status

Recruiting

Last Update Posted

Mar 13, 2026Actual

Enrollment

70Estimated

Phase

Not Applicable

Conditions

Heterozygous Familial Hypercholesterolemia (HeFH)
Homozygous Familial Hypercholesterolemia (HoFH)
Familial Hypercholesterolemia

Interventions

Screening for FH

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

ID	Type	Description	Link
UWMSN \| SMPH \| Pediatrics - Ca	Other Identifier	UW- Madison
Protocol Version 2/24/26	Other Identifier	UW- Madison

Status Module

Record Verification Date

Feb 2026

Overall Recruitment Status or Expanded Access Status

Recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Feb 14, 2026Actual

Primary Completion Date

Feb 14, 2029Estimated

Completion Date

Feb 14, 2029Estimated

First Submitted Date

Mar 9, 2026

First Submission Date that Met QC Criteria

Mar 9, 2026

First Posted Date

Mar 13, 2026Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Mar 9, 2026

Last Update Posted Date

Mar 13, 2026Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Yes

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

Brief 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.

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.

Design Module

Study Type

Interventional

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not Applicable

Interventional Study Design

Allocation

Biospecimen

No data available

No data is available for this block.

Enrollment

70Estimated

Label	Type	Description	Intervention Names
Newborns	Experimental	Newborns screened for FH	Diagnostic Test: Screening for FH

Name	Type	Description	Arm Group Labels	Other Names
Screening for FH	Diagnostic Test	Participants will provide 5 blood samples for screening for FH.	Newborns

Outcomes Module

Primary Outcomes

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

Secondary Outcomes

Measure	Description	Time Frame
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.	1 month, 2 years
Differences in Total Cholesterol (TC)

Other Outcomes

Not provided

Eligibility Module

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.

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

18 Years

Maximum Age

Not provided

Standard Ages

AdultOlder Adult

Study Population

Not provided

Sampling Method

Not provided

Name	Role	Phone	Extension	Email
Xiao Zhang, PhD	Contact			xiao.zhang@wisc.edu

Name	Affiliation	Role
Amy Peterson, MD, MS	University of Wisconsin, Madison	Principal Investigator

Facility	Status	City	State	ZIP	Country	Contacts
University of Wisconsin - Madison	Recruiting	Madison	Wisconsin	53792	United States

Condition Browse Module

MeSH Terms

ID	Term
D000090542	Homozygous Familial Hypercholesterolemia
D006938	Hyperlipoproteinemia Type II

Ancestor Terms

ID	Term
D008052	Lipid Metabolism, Inborn Errors
D008661	Metabolism, Inborn Errors
D030342	Genetic Diseases, Inborn
D009358	Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Browse Leaves

Not provided

Browse Branches

Not provided

ID	Term
D019937	Diagnostic Techniques and Procedures
D003933	Diagnosis
D006306	Health Surveys
D011795	Surveys and Questionnaires