北陆加型家族性高胆固醇血症登记研究：原理与研究设计
Hokuriku-plus familial hypercholesterolaemia registry study: rationale and study design.
作者信息
Tada Hayato, Okada Hirofumi, Yoshida Shohei, Shimojima Masaya, Nomura Akihiro, Tsuda Toyonobu, Mori Mika, Takashima Shin-Ichiro, Kato Takeshi, Usui Soichiro, Sakata Kenji, Hayashi Kenshi, Fujino Noboru, Inazu Akihiro, Takahara Shizuko, Imai Yasuhito, Matsubara Takao, Nohara Atsushi, Miwa Kenji, Namura Masanobu, Terai Hidenobu, Yoshida Taiji, Araki Tsutomu, Minamoto Masahiro, Aburao Toru, Ito Yuji, Nakanishi Chiaki, Kawasaki Suguru, Todo Yasuhiro, Koizumi Junji, Kita Yoshihito, Matsumoto Hiroshi, Shintaku Hiroaki, Hodatsu Akihiko, Ino Hidekazu, Higashikata Toshinori, Takata Mutsuko, Misawa Katsushi, Yamaguchi Masato, Noji Yoshihiro, Osato Kazuo, Mabuchi Tomohito, Ichise Taro, Kaku Bunji, Katsuda Shoji, Fujimoto Manabu, Uchiyama Katsuharu, Fujioka Kensuke, Nakahashi Takuya, Nozue Tsuyoshi, Michishita Ichiro, Usuda Kazuo, Otowa Kanichi, Okeie Kazuyasu, Hirota Satoshi, Aburadani Isao, Kurokawa Keisuke, Takatori Osamu, Hondo Shunichiro, Oda Hiroyuki, Takata Shigeo, Murai Hisayoshi, Kinoshita Masaki, Nagai Hideo, Sekiguchi Yoshiteru, Sakagami Satoru, Omi Wataru, Fujita Chikara, Katsuki Tatsuo, Ootsuji Hiroshi, Igarashi Atsushi, Nakano Manabu, Okura Seiichiro, Maeno Koji, Mitamura Yasuhito, Sugimoto Naoki, Yamamoto Masakazu, Akao Hironobu, Kajinami Kouji, Takamura Masayuki, Kawashiri Masa-Aki
机构信息
Department of Cardiovascular Medicine, Graduate School of Medical Sciences, Kanazawa University, Kanazawa, Japan
Department of Cardiovascular Medicine, Graduate School of Medical Sciences, Kanazawa University, Kanazawa, Japan.
出版信息
BMJ Open. 2020 Sep 10;10(9):e038623. doi: 10.1136/bmjopen-2020-038623.
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.
TRIAL REGISTRATION NUMBER
UMIN000038210.
引言
家族性高胆固醇血症（FH）是一种常染色体显性遗传疾病。它具有极高的心血管风险，与低密度脂蛋白（LDL）胆固醇显著升高有关。由于存在多个前瞻性登记系统，该疾病在一些欧洲国家的诊断率相当高。另一方面，关于日本人群中这一问题的数据很少，尤其是多中心数据。因此，本研究旨在建立一个多中心登记系统，旨在全面评估日本FH患者的心血管风险，同时考虑他们的遗传背景。
方法与分析
北陆加FH登记系统是一项前瞻性、观察性、多中心队列研究，从2020年4月至2024年3月，在日本北陆地区的37家参与医院招募符合日本FH临床标准的连续FH患者。总共将有1000名患者纳入该研究，我们计划对参与者进行5年以上的随访。我们将收集临床参数，包括血脂、体格检查结果、遗传背景以及涵盖动脉粥样硬化和其他重要事件（如恶性肿瘤）的临床事件。本研究的主要终点是新发动脉粥样硬化性心血管疾病（ASCVD）事件。次要终点如下：LDL胆固醇、继发性ASCVD事件以及包括高血压、糖尿病和恶性肿瘤在内的其他疾病的发生情况。
伦理与传播
本研究按照《赫尔辛基宣言》、《涉及人类受试者的医学和健康研究伦理准则》以及日本所有其他适用法律和准则进行。本研究方案已获得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审期刊上公布最终结果。
试验注册号
UMIN000038210。
Zotero 插件