Opportunity to Reach Individuals With Genetic Dyslipidemia During Infancy and the Newborn Period to Find Familial Hypercholesterolemia
University of Wisconsin, Madison
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.
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.
Eligibility
- Age range
- 18+ years
- Sex
- All
- Healthy volunteers
- No
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…
Interventions
- Diagnostic TestScreening for FH
Participants will provide 5 blood samples for screening for FH.
Location
- University of Wisconsin - MadisonMadison, Wisconsin