Hokuriku-plus familial hypercholesterolaemia registry study: rationale and study design
Authors: 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 
Published: September 2020

IntroductionFamilial 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 analysisThe 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 disseminationThis 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 numberUMIN000038210.