Insight into Rare and Intractable Disease in Japan through Cardiomyopathy

Abstract

 Japan has promoted research and expanded support for patients with rare and intractable diseases under national policy outline since 1972. In 2015, act on medical care for patients with rare and intractable diseases was newly launched. In this new act, the following criteria were set of designating intractable diseases: (1) rarity, (2) unknown etiology, (3) lack of effective treatment, and (4) necessity of long-term treatment. The number of designated intractable diseases was increased from 110 in April 2015 to 338 in August 2022. Both dilated cardiomyopathy and hypertrophic cardiomyopathy had been designated as rare and intractable diseases before this act was launched. Although promoting research on rare and intractable disease is generally difficult with respect to obtaining financial support and recruiting patients, the scientific progress and therapeutic development for cardiomyopathy have been remarkable in recent years. The progress has been also made in the field of supporting patients by multidisciplinary team with the establishment of intractable disease support centers in 2003. On the other hand, further initiative against these diseases is needed because almost nothing has been changed for years on some ultra-rare diseases. This paper insights into the present status of the rare and intractable disease in Japan through a representative intractable disease, cardiomyopathy.