Opportunity to Reach Individuals With Genetic Dyslipidemia During Infancy and the Newborn Period to Find Familial Hypercholesterolemia
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 70
- 试验地点
- 1
- 主要终点
- Number of diagnostically confirmed HeFH newborns born to expectant parent partnerships where one or both partners have phenotypic HoFH or HeFH.
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- •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.
研究组 & 干预措施
Newborns
Newborns screened for FH
干预措施: Screening for FH (Diagnostic Test)
结局指标
主要结局
Number of diagnostically confirmed HeFH newborns born to expectant parent partnerships where one or both partners have phenotypic HoFH or HeFH.
时间窗: 2 years
Number of diagnostically confirmed HoFH newborns born to expectant parent partnerships where one or both partners have phenotypic HoFH or HeFH.
时间窗: 2 years
次要结局
- 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)