Is Family Screening Improved by Genetic Testing of Familial Hypercholesterolemia
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 240
- 主要终点
- Number of probands with relatives enrolled
研究概览
简要总结
To test the hypothesis that in patients with a clinical diagnosis of familial hypercholesterolemia (FH), genetic testing and identification of a causative mutation might enhance the success of family-based cascade screening.
详细描述
To examine the impact of genetic testing on the efficiency of cascade screening for FH, patients with suspected FH or a clinical diagnosis of FH have been randomized to genetic testing or standard of care with lipid testing alone. After systematic encouragement of family enrollment, as a primary endpoint, the compared the number of probands with relatives enrolled in each group one year after results were returned to probands. The secondary endpoints examined include the number of relatives enrolled within 52 weeks of the genetic counseling call and the number of relatives diagnosed with FH through the study. Exploratory subgroup analyses were conducted stratifying the cohort by randomization/genetic test result. Further exploratory analyses compared probands' perceptions about high cholesterol diagnosis at baseline and at 20 weeks from enrollment
研究设计
- 研究类型
- Interventional
- 分配方式
- Randomized
- 干预模型
- Parallel
- 主要目的
- Other
- 盲法
- None
入排标准
- 年龄范围
- 10 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •For probands, inclusion criteria are as follows:
- •LDL cholesterol > 220 mg/dL or a previous clinical diagnosis of FH
- •Aged 18 years or older
- •Ability to provide informed consent
- •Willingness/ability to contact a minimum of 2 biological relatives about the study
排除标准
- •For family members of probands, inclusion criteria are as follows:
- •Willingness to participate in the study
- •Age 10 or older
- •Ability to give informed consent/assent
结局指标
主要结局
Number of probands with relatives enrolled
时间窗: 52 weeks after genetic/lipid testing results are returned to probands
The primary outcome of this study was the number of probands with family members enrolled in the study within 52 weeks of results being returned to probands. Investigators compared the proportion of probands with a relative enrolled in the genetic testing group with the proportion of probands with a relative enrolled in the usual care group (lipid testing only). Relative enrolment was defined as the return of a test kit within the study time frame.
次要结局
- The number of family members diagnosed with FH 52 weeks after results were returned to probands(52 weeks after results are returned to probands)
- The number of relatives enrolled in the study 52 weeks after results were returned to probands(52 weeks after results are returned to probands)