Nationwide comprehensive epidemiological study of rare diseases in Japan using a health insurance claims database.

ABSTRACT:

Background

There are more than 7000 rare diseases, most of which have no specific treatment. Disease profiles, such as prevalence and natural history, among the population of a specific country are essential in determining for which disease to research and develop drugs. In Japan, disease profiles of fewer than 2000 rare diseases, called Nanbyo, have been investigated. However, non-Nanbyo rare diseases remain largely uninvestigated. Accordingly, we revealed the prevalence and natural history of rare diseases among the Japanese population. This cross-disease study is the first to analyze rare-disease epidemiology in Japan with high accuracy, disease coverage, and granularity.

Method

We applied for permission to use the National Database of Health Insurance Claims and Specific

SUBMITTER: Ninomiya K 

PROVIDER: S-EPMC8961906 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature