Measures to combat rare diseases and promote orphan drug development in Japan: government-funded special biomedical research programs to enhance basic and applied research

ABSTRACT

Introduction: As a measure to combat rare diseases and promote the development of orphan drugs, special research programs to strengthen basic and applied research on rare diseases have been well implemented in some countries, including Japan.

Areas covered: This review reflects the current status of systems to research rare diseases in Japan. In particular, it focuses on the government-funded special biomedical research programs to strengthen basic and applied research, the ‘Program to Research Treatments for Specified Diseases’ and ‘Centers to Conduct Early/Exploratory Clinical Trials in Specific Research Areas’.

Expert opinion: Government-funded special biomedical research programs to enhance basic and applied research have been emphasized and are expected to play an even greater role in combating rare diseases in Japan in the future.

KEYWORDS:

• Rare diseases
• intractable diseases
• orphan drugs
• research project

Article highlights

• Measures to combat rare diseases in Japan involve multi-faceted researches, including epidemiological studies, basic research, clinical research, and applied research;

• As of 2014, epidemiological data haves been collected on 925,646 patients with rare diseases;

• As of 2015, 98 standardized guides for diagnosis (75.38%) and 72 standardized guides for treatment (55.38%) of 130 rare diseases were published;

• In addition, 121 hospitals have been certified as centers for treatment of rare diseases and 1,456 hospitals have been certified as hospitals collaborating in the treatment of rare diseases;

• Focus on those completed research projects that were approved in 2010, a total of $5,257,064.2 has been granted for 359 research projects involving 28 diseases in 12 diseases category, and a total of 1,332 papers were published as of the end of 2014.

• Novel drugs to treat intractable and rare immunological and neuropsychiatric diseases will enter into early/exploratory clinical trials with the support of government financing and policies.

This box summarizes key points contained in the article.

Declaration of interest

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.