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.
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.
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.
Single group
Screening for FH
Diagnostic testParticipants will provide 5 blood samples for screening for FH.
Number of diagnostically confirmed HoFH newborns born to expectant parent partnerships where one or both partners have phenotypic HoFH or HeFH.
Number of diagnostically confirmed HeFH newborns born to expectant parent partnerships where one or both partners have phenotypic HoFH or HeFH.
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.
Differences in Total Cholesterol (TC)
TC will be measured and compared between newborns with HeFH/HoFH and those not affected by FH.
Differences in Apolipoprotein B (apoB)
ApoB will be measured and compared between newborns with HeFH/HoFH and those not affected by FH.
Differences in Lipoprotein A (Lp(a))
Lp(a) will be measured and compared between newborns with HeFH/HoFH and those not affected by FH.
Click on the lead sponsor to view all of their trials.
