Hokuriku-plus familial hypercholesterolaemia registry study: rationale and study design
Hokuriku-plus familial hypercholesterolaemia registry study: rationale and study design
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DOI：
10.1136/bmjopen-2020-038623
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发表时间：
2020-01-01
期刊：
影响因子：
2.9
通讯作者：
Kawashiri, Masa-aki
中科院分区：
文献类型：
--
作者：
Tada, Hayato;Okada, Hirofumi;Kawashiri, Masa-aki
前言家族性高胆固醇血症(FH)是一种常染色体显性遗传病。它具有极高的心血管风险，与显著升高的低密度脂蛋白(LDL)胆固醇相关。由于存在多个前瞻性登记，这种疾病在一些欧洲国家的诊断率相当高。另一方面，在日本受试者中，关于这一问题的数据很少，特别是多中心数据。因此，这项研究打算建立一个多中心注册中心，旨在综合评估日本FH患者的心血管风险，同时考虑他们的遗传背景。方法和分析Hokuriku-plus FH登记是一项前瞻性、观察性、多中心队列研究，从2020年4月至2024年3月从37家参与医院招募符合日本FH临床标准的FH患者。共有1000名患者将参加这项研究，我们计划在5年内对参与者进行跟踪调查。我们将收集临床参数，包括血脂、体检结果、遗传背景和临床事件，涵盖动脉粥样硬化和其他重要事件，如恶性肿瘤。这项研究的主要终点是新的动脉粥样硬化性心血管疾病(ASCVD)事件。次要终点如下：低密度脂蛋白、继发性ASCVD事件和其他疾病的发生，包括高血压、糖尿病和恶性肿瘤。伦理和传播这项研究是按照《赫尔辛基宣言》、《人体医学和健康研究伦理指南》以及日本所有其他适用的法律和指南进行的。这项研究方案已得到金泽大学机构审查委员会的批准。我们将在国际会议和同行评议的期刊上公布最终结果。
Introduction Familial hypercholesterolaemia (FH) is an autosomal-dominant inherited genetic disease. It carries an extremely high cardiovascular risk associated with significantly elevated low-density lipoprotein (LDL) cholesterol. The diagnostic rate of this disease in some European nations is quite high, due to the presence of multiple prospective registries. On the other hand, few data-and in particular multicentre data-exist regarding this issue among Japanese subjects. Therefore, this study intends to assemble a multicentre registry that aims to comprehensively assess cardiovascular risk among Japanese FH patients while taking into account their genetic backgrounds. Methods and analysis The Hokuriku-plus FH registry is a prospective, observational, multicentre cohort study, enrolling consecutive FH patients who fulfil the clinical criteria of FH in Japan from 37 participating hospitals mostly in Hokuriku region of Japan from April 2020 to March 2024. A total of 1000 patients will be enrolled into the study, and we plan to follow-up participants over 5 years. We will collect clinical parameters, including lipids, physical findings, genetic backgrounds and clinical events covering atherosclerotic and other important events, such as malignancies. The primary endpoint of this study is new atherosclerotic cardiovascular disease (ASCVD) events. The secondary endpoints are as follows: LDL cholesterol, secondary ASCVD events and the occurrence of other diseases including hypertension, diabetes and malignancies. Ethics and dissemination This study is being conducted in compliance with the Declaration of Helsinki, the Ethical Guidelines for Medical and Health Research Involving Human Subjects, and all other applicable laws and guidelines in Japan. This study protocol has been approved by the Institutional Review Board at Kanazawa University. We will disseminate the final results at international conferences and in a peer-reviewed journal.