Recruiting

Familial Hypercholesterolemia

Sponsor:

University of Wisconsin, Madison

Code:

NCT07470723

Conditions

Heterozygous Familial Hypercholesterolemia (HeFH)

Homozygous Familial Hypercholesterolemia (HoFH)

Familial Hypercholesterolemia

Eligibility Criteria

Sex: All

Age: 18+

Healthy Volunteers: Not accepted

Interventions

Screening for FH

Study Details

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.

Conditions

Heterozygous Familial Hypercholesterolemia (HeFH)

Homozygous Familial Hypercholesterolemia (HoFH)

Familial Hypercholesterolemia

Study ID

NCT07470723

Start date

Feb 14, 2026

Status verified date

Feb, 2026

Completion date

Feb 14, 2029

Anticipated

Primary completion date

Feb 14, 2029

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 18+

Healthy Volunteers: Not accepted

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.

Study Design

Enrollment

70 participants

Anticipated

Intervention Model

Single group

Primary purpose

Diagnostic

Interventions and Outcome Measures

Arms

experimental: Newborns

Newborns screened for FH

Interventions

Screening for FH

Participants will provide 5 blood samples for screening for FH.

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 ]
  • 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 ]

Central Contacts and Locations

Central contacts

Xiao Zhang, PhD

xiao.zhang@wisc.edu

Locations

University of Wisconsin - Madison

Recruiting

Madison, Wisconsin, United States, 53792

Contacts

Xiao Zhang, PhD

xiao.zhang@wisc.edu

More Information

Sponsor

University of Wisconsin, Madison

Last update posted

Mar 13, 2026

Last verified

Feb, 2026

Keywords

  • cholesterol
  • newborn screening
  • pediatric
  • infant

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by University of Wisconsin, Madison on 2026-03-13.