University Of Tokyo Reports Findings In Rare Diseases And Conditions (Nationwide Comprehensive Epidemiological Study Of Rare Diseases In Japan Using A Health Insurance Claims Database): Rare Diseases And Conditions – InsuranceNewsNet – Insurance News Net

2022 APR 12 (NewsRx) — By a News Reporter-Staff News Editor at Insurance Daily News — New research on Rare Diseases and Conditions is the subject of a report. According to news reporting from Tokyo, Japan, by NewsRx journalists, research stated, “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.”

The news correspondents obtained a quote from the research from the University of Tokyo, “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. We applied for permission to use the National Database of Health Insurance Claims and Specific Health Checkups of Japan (NDB), which covered 99.9% of public health insurance claims from hospitals and 97.9% from clinics as of May 2015. Then, we obtained 10 years of data on the number of patients of approx. 4500 rare diseases, by sex and age. We translated disease names and established correspondences between rare diseases in NDB and those in Orphanet. Accordingly, we compared the prevalence and natural history between them. About 3000 diseases in NDB are included in Orphanet and other medical databases. The data indicates that even if the Nanbyo systems do not cover a rare disease, its patients survive in many cases. Regarding natural history, genetic diseases tend to be diagnosed later in Japan than in the West. The data shown in this research are available in the Additional file 1 and the website of NanbyoData. Our research revealed the basic epidemiology and natural history of Japanese patients with some rare diseases using a health insurance claims database. The results imply that the coverage of the present Nanbyo systems is inadequate for rare diseases. Therefore, fundamental reform might be needed to reduce unfairness between rare diseases. Most diseases in Japan follow a tendency of natural history similar to those reported in Orphanet. However, some are detected later, partly because fewer clinical genetic tests are available in Japan than in the West.”

According to the news reporters, the research concluded: “Finally, we hope that our data and analysis accelerate drug discovery for rare diseases in Japan.”

For more information on this research see: Nationwide comprehensive epidemiological study of rare diseases in Japan using a health insurance claims database. Orphanet Journal of Rare Diseases, 2022;17(1):140. Orphanet Journal of Rare Diseases can be contacted at: Bmc, Campus, 4 Crinan St, London N1 9XW, England. (BioMed Central – http://www.biomedcentral.com/; Orphanet Journal of Rare Diseases – www.ojrd.com)

Our news journalists report that additional information may be obtained by contacting Kota Ninomiya, Social Cooperation Program of IT Healthcare, Graduate School of Pharmaceutical Sciences, University of Tokyo, Tokyo, Japan.

The direct object identifier (DOI) for that additional information is: https://doi.org/10.1186/s13023-022-02290-0. This DOI is a link to an online electronic document that is either free or for purchase, and can be your direct source for a journal article and its citation.

Publisher contact information for the Orphanet Journal of Rare Diseases is: Bmc, Campus, 4 Crinan St, London N1 9XW, England.

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