Identifying Familial Hypercholesterolemia in Expectant Parents and Their Newborns A Two-Year Study Using Genetic and Blood Screening

What this Trial Is About

Researchers are conducting the ORIGIN-FH study to identify different types of Familial Hypercholesterolemia FH in newborns and infants. This two-phase cohort study focuses on expectant parents where one or both partners have diagnosed or suspected heterozygous or homozygous FH. The goal is to prospectively screen and diagnose their newborns with HoFH, HeFH, or determine if they are unaffected by FH. Participants will provide cheek swabs for genetic testing parents only and newborns will have five blood samples collected for FH screening. The study will enroll newborns who meet specific inclusion criteria and will monitor their lipid profiles over time. The study spans two years, during which newborns will be screened and diagnosed for FH types. Throughout the two-year participation, researchers will collect blood samples and monitor cholesterol and lipoprotein levels at one month and two years of age. Outcomes include the number of diagnostically confirmed HoFH and HeFH newborns and changes in lipid markers such as LDL cholesterol, total cholesterol, apolipoprotein B, and lipoprotein A. Participants will comply with study procedures and may use local laboratory services or mobile phlebotomy for infant blood collections.

The ORIGIN-FH Study