2023 年 40 巻 1 号 p. 12-16
The patient registry of amyotrophic lateral sclerosis (ALS) can play many roles in providing appropriate care to patients and promoting therapeutic development for ALS. In Japan, a multicenter registration and follow–up system called Japanese Consortium for Amyotrophic Lateral Sclerosis research (JaCALS) was built in 2006. Genomic DNA samples and B–cell lines of ALS patients were stored and linked to the clinical information. JaCALS showed natural histories and genetic backgrounds of Japanese ALS patients and clinical and genetic factors associated with progression and prognosis of ALS. Technology has been developed to create iPS cells from B–cell lines and perform phenotypic analysis, indicating that the combination of clinical and genomic information with iPS cells may play an important role in pathophysiological analysis and therapeutic drug screening. Efforts are also being made to create real–world evidence by utilizing large–scale longitudinal clinical information. The role of the patient registry in therapeutic development and validation is expected to increase in the future.
