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首页> 外文期刊>Journal of Personalized Medicine >Design of a Controlled Trial of Cascade Screening for Hypercholesterolemia: The (CASH) Study
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Design of a Controlled Trial of Cascade Screening for Hypercholesterolemia: The (CASH) Study

机译：高胆固醇血症的级联筛查的对照试验设计：（CASH）研究

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To inform guidelines for screening family members of patients with familial hypercholesterolemia (FH), we designed a clinical trial to compare the yield of cascade screening in FH patients with and without an identifiable pathogenic variant. Participants with hypercholesterolemia (Low-density lipoprotein cholesterol (LDL-C) 155 mg/dL) underwent sequencing of LDLR , APOB , and PCSK9 and genotyping of six single nucleotide polymorphisms associated with LDL-C followed by calculation of a polygenic score for LDL-C. We identified 24 patients with definite FH (pathogenic variant in one of the three FH genes), 76 patients with probable FH (Dutch lipid clinic network (DLCN) score ≥ 6, no pathogenic variant), and 262 patients with possible FH (DLCN score 3–5, no pathogenic variant). We will enroll 50 patients with definite FH by recruiting an additional 26 from the FH Clinic at Mayo and 50 patients each with probable and possible FH, matching on age and sex. Family members of patients with definite FH will undergo testing for the relevant pathogenic variant using saliva kits and family members of those with probable/possible FH will have a lipid profile checked. We will assess the number of new cases detected (defined as presence of a pathogenic variant in the family member of definite FH patient or LDL-C 155 mg/dL (130 mg/dL in children) in family members of probable/possible FH patients, and the cost of detecting a new case. The proposed clinical trial will compare the yield and cost of cascade screening for FH patients with/without an identifiable pathogenic variant, and thereby inform guidelines for cascade screening for FH.
机译：为了为筛查家族性高胆固醇血症（FH）患者的家庭成员提供指导，我们设计了一项临床试验，以比较在有和没有可确定的病原体变异的FH患者中进行级联筛查的收益。对高胆固醇血症（低密度脂蛋白胆固醇（LDL-C）> 155 mg / dL）的参与者进行LDLR，APOB和PCSK9测序，并对与LDL-C相关的六个单核苷酸多态性进行基因分型，然后计算LDL的多基因得分-C。我们确定了24例明确的FH（三个FH基因之一中的致病变异），76例可能的FH（荷兰血脂临床网络（DLCN）得分≥6，无病原体变异）和262例可能的FH（DLCN得分）患者3-5，无病原体）。我们将从Mayo的FH诊所招募另外26名FH确诊的FH患者，并根据年龄和性别匹配50名可能和可能的FH的患者。患有确定性FH的患者的家庭成员将使用唾液试剂盒进行相关病原体测试，而可能/可能患有FH的患者的家庭成员将进行血脂检查。我们将评估在可能/可能的家庭成员中检测到的新病例数（定义为FH患者家庭成员中存在致病性变体或LDL-C> 155 mg / dL（儿童中> 130 mg / dL）跳频患者以及检测新病例的成本拟议的临床试验将比较有/无可识别的病原体变异的跳频患者的级联筛查的收益和费用，从而为跳频的级联筛查提供指导。

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