NCT07470723

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.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
70

participants targeted

Target at P50-P75 for not_applicable

Timeline
31mo left

Started Feb 2026

Typical duration for not_applicable

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

Study Progress16%
Feb 2026Feb 2029

Study Start

First participant enrolled

February 14, 2026

Completed
23 days until next milestone

First Submitted

Initial submission to the registry

March 9, 2026

Completed
4 days until next milestone

First Posted

Study publicly available on registry

March 13, 2026

Completed
2.9 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

February 14, 2029

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

February 14, 2029

Last Updated

March 13, 2026

Status Verified

February 1, 2026

Enrollment Period

3 years

First QC Date

March 9, 2026

Last Update Submit

March 9, 2026

Conditions

Homozygous Familial Hypercholesterolemia (HoFH)Familial HypercholesterolemiaHeterozygous Familial Hypercholesterolemia (HeFH)

Keywords

cholesterolnewborn screeningpediatricinfant

Outcome Measures

Primary Outcomes (2)

  • 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 (4)

  • Differences in Low Density Lipoprotein Cholesterol (LDL-C)

    1 month, 2 years

  • Differences in Total Cholesterol (TC)

    1 month, 2 years

  • Differences in Apolipoprotein B (apoB)

    1 month, 2 years

  • Differences in Lipoprotein A (Lp(a))

    1 month, 2 years

Study Arms (1)

Newborns

EXPERIMENTAL

Newborns screened for FH

Diagnostic Test: Screening for FH

Interventions

Screening for FHDIAGNOSTIC_TEST

Participants will provide 5 blood samples for screening for FH.

Newborns

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)

You may qualify if:

  • 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.

You may not qualify if:

  • 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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

University of Wisconsin - Madison

Madison, Wisconsin, 53792, United States

RECRUITING

MeSH Terms

Conditions

Homozygous Familial HypercholesterolemiaHyperlipoproteinemia Type II

Interventions

Mass Screening

Condition Hierarchy (Ancestors)

Lipid Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesHyperlipoproteinemiasHyperlipidemiasDyslipidemiasLipid Metabolism DisordersMetabolic DiseasesNutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Diagnostic Techniques and ProceduresDiagnosisHealth SurveysSurveys and QuestionnairesData CollectionEpidemiologic MethodsInvestigative TechniquesDiagnostic ServicesPreventive Health ServicesHealth ServicesHealth Care Facilities Workforce and ServicesHealth Care Evaluation MechanismsQuality of Health CareHealth Care Quality, Access, and EvaluationPublic HealthEnvironment and Public HealthPublic Health Practice

Study Officials

  • Amy Peterson, MD, MS

    University of Wisconsin, Madison

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Xiao Zhang, PhD

CONTACT

xiao.zhang@wisc.edu

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
DIAGNOSTIC
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

March 9, 2026

First Posted

March 13, 2026

Study Start

February 14, 2026

Primary Completion (Estimated)

February 14, 2029

Study Completion (Estimated)

February 14, 2029

Last Updated

March 13, 2026

Record last verified: 2026-02

Data Sharing

IPD Sharing
Will share

Locations

US(1)