ALSにおける患者レジストリの役割—JaCALSなど

The Role of Patient Registry in the Care and Therapeutic Development for Patients with Amyotrophic Lateral Sclerosis: JaCALS

ALS患者に適切な診療とケアを提供し，治療開発を推進するために，患者レジストリの果たし得る役割は大きい。わが国のALS患者レジストリJaCALSからは多様なALS患者の自然歴，遺伝的背景，進行・予後に関わる臨床的，遺伝的背景が示され，生体試料を活用した病態解明，創薬の取組みも行われている。今後さらに大規模症例数を生かしたリアルワールドエビデンスの創出が試みられる予定である。

Abstract

Amyotrophic lateral sclerosis (ALS) patient registries can assist in the provision of appropriate care to patients and promote therapeutic developments related to ALS. In Japan, a multicenter registration and follow-up system called the Japanese Consortium for Amyotrophic Lateral Sclerosis research (JaCALS) was built in 2006. Genomic DNA samples and B-cell lines of patients with ALS were stored and linked to clinical information. Information obtained from JaCALS shows the natural histories of Japanese patients with ALS, including their genetic backgrounds and clinical and genetic factors associated with disease progression and prognosis. Research efforts that focus on pathophysiology, identification of biomarkers related to progression and prognosis, and drug discoveries for patients with ALS are advanced using data obtained from JaCALS. In the future, we expect that JaCALS will be a source of real-world evidence, combining data from a large number of cases.