希少てんかん症候群患者のレジストリ

抄録

Intractable/Rare Diseases Act (effective in 2015) covers more than 20 syndromes/diseases in which epileptic seizure is a main symptom or one of the main symptoms. To unveil the present situations of intractable/rare epilepsy syndromes/diseases, the “Rare Epilepsy Syndrome Registry (RES–R)” was initiated in 2014 in Japan. RES–R covers a wide variety of items about epilepsy, from seizure type to psychosocial status. With the collaboration of physicians engaged in epilepsy practice from all over Japan, RES–R accumulates and in part follows epilepsy cases to gain epidemiological evidence on intractable/rare epilepsy syndromes/diseases. There are 3454 cases registered as of Nov 2021. Interim analysis showed that 63% of patients with epilepsy other than idiopathic or self–limited syndrome suffered from monthly seizures, 71% comorbidities, and 87% fulfilled the severity criteria of the Act. However, the number of cases registered might represent only about 4% of the cases of rare epilepsy syndrome/disease in Japan estimated from the literature. A follow–up study of 27 new–onset West syndrome patients revealed improved seizure status after 2 years in 66.7%, but worsened intellectual developmental status in 55.6%, with overall improvement in 51.9%. We also conducted a prospective cohort study in which 60 patients with focal cortical dysplasia type II registered in RES–R were included as an external control of investigator–initiated sirolimus trial. In parallel with RES–R, we started a Cause of Death in Epilepsy registry since 2018, where sudden unexpected death consists of one fourth of the causes of death in epilepsy so far. Epilepsy syndrome registry should help facilitate proper application of the Intractable/Rare Diseases Act as well as collaborative clinical studies on epilepsy.