Atsuta Naoki, Sobue Gen
Department of Neurology, Nagoya University Hospital.
Rinsho Shinkeigaku. 2010 Nov;50(11):928-30. doi: 10.5692/clinicalneurol.50.928.
To investigate the longitudinal course of Japanese patients with Amyotrophic Lateral Sclerosis (ALS), we constructed a multicenter registration and follow-up system called Japanese Consortium for Amyotrophic Lateral Sclerosis research (JaCALS). Genomic DNA samples of ALS patients were stored and linked to the clinical information. We designed a telephone survey system using a clinical research coordinator (CRC) to check the score of the ALS Functional Rating Scale-R (ALSFRS-R) and the prognosis every 3 months. In January 2006, we began registering ALS patients, and, at present, 19 neurology facilities are participating in the JaCALS. Currently, 421 Japanese ALS patients are registered. The longitudinal courses and prognoses of 93% of the 284 patients over a year from registration have been recorded in this system. In collaboration with the RIKEN Center for Genomic Medicine, genome-wide association studies (GWAS) for ALS susceptibility genes were conducted using 981 ALS samples from the JaCALS and BioBank Japan. Novel associated genes were identified, and replication studies are underway. JaCALS has established an efficient registration and follow-up system with genomic DNA resources of ALS patients, and will contribute to identify ALS-associated genes and to promote clinical researches.
为了研究日本肌萎缩侧索硬化症（ALS）患者的疾病发展过程，我们构建了一个名为日本肌萎缩侧索硬化症研究联盟（JaCALS）的多中心登记与随访系统。ALS患者的基因组DNA样本被储存起来，并与临床信息相关联。我们设计了一个由临床研究协调员（CRC）参与的电话调查系统，每3个月检查一次ALS功能评定量表修订版（ALSFRS-R）的评分和患者预后情况。2006年1月，我们开始对ALS患者进行登记，目前有19家神经科机构参与了JaCALS。目前，已登记了421名日本ALS患者。该系统记录了284名患者自登记起一年多时间里93%的疾病发展过程和预后情况。我们与日本理化学研究所基因组医学中心合作，利用来自JaCALS和日本生物银行的981份ALS样本，对ALS易感基因进行了全基因组关联研究（GWAS）。已鉴定出新型相关基因，复制研究正在进行中。JaCALS利用ALS患者的基因组DNA资源建立了一个高效的登记与随访系统，将有助于识别ALS相关基因并推动临床研究。
