皮質下梗塞と白質脳症を伴う常染色体優性脳動脈症患者のレジストリ

抄録

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebral small vessel disease characterized by recurrent stroke and progressive cognitive impairment, which is caused by the NOTCH3 mutation. Although CADASIL was previously considered a rare disease, recent genomic studies have recognized pathogenic NOTCH3 mutations in approximately 1% of the general population in East Asia. The clinical course is not uniform in CADASIL patients. The genotype–phenotype correlations remain elusive.

We are currently conducting an AMCAD trial to evaluate the safety and efficacy of adrenomedullin, a vasoactive peptide with strong angiogenic, anti–inflammatory, and oligodendrogenetic effects, in CADASIL patients. However, since CADASIL appears to be underdiagnosed, it would be difficult to conduct a larger confirmatory trial in Japan ; international collaborative research is important to promote drug development for CADASIL. We therefore plan to establish an East Asian CADASIL registry in collaboration with Taiwan and South Korea. Researchers in each country will enter clinical data of CADASIL patients, which will be stored in an electronic data capture system. MRI data will be evaluated by an independent review board. More than 1000 CADASIL patients will be enrolled in the registry.