Global strategy for rare and intractable diseases

Abstract

The progress has been made in research on rare and intractable diseases, for which new drug development has long been limited due to rarity, by establishing a global network in recent years. In Japan, the countermeasure of rare and intractable diseases has been implemented under national policy outline as an integrated strategy since 1972, including surveys and research, construction of medical facilities, reducing burden of medical expenses for patients, and enhancement of welfare and improving QOL of patients. Along with legislation or regulation of orphan drugs development, treatment and care for rare diseases have been emphasized in each national healthcare system globally. In the US, the Office of Rare Diseases was established under NIH in 1989 and European countries also started collaboration for rare disease projects with their own national plans in 1999. As a platform of rare diseases patients, healthcare professionals, researchers, pharmaceutical industry, and policy makers, Orphanet has a well-designed website which networks them. In Japan, there are urgent needs for global standard patient registration system and strengthening global collaboration for developing treatment and care for the patients of rare and intractable diseases, which needs more cooperative relations with patient organizations and pharmaceutical industry within country.