Regarding “Recommendations on Intractable and Rare Diseases Based on a Survey of Challenges Faced by Healthcare Professionals”

These recommendations summarize directions for addressing challenges based on the results of the “Survey on Challenges Faced by Healthcare Professionals in the Field of Rare Diseases,” conducted by IRUD, RDCJ, and the JPMA in 2024.

We hope that through this document, various stakeholders—including healthcare professionals, academic societies, patient organizations, government agencies, and the pharmaceutical and other industries—will collaborate to help realize, as soon as possible, a society where more patients with intractable and rare diseases can live with peace of mind.

IRUD　 https://plaza.umin.ac.jp/irud/recent_developments.php#date20241107

RDCJ https://www.ncnp.go.jp/nin/guide/r_dna2/rdcj.html

JPMA https://www.jpma.or.jp/information/industrial_policy/rare_diseases/teigen/index.html

What Are Rare Diseases?] Although the number of patients per disease is small, more than 7,000 rare diseases have been identified worldwide, and the total number of patients is estimated to be 300 million.Although definitions vary by country, according to the “Designation System for Orphan Drugs, Medical Devices for Rare Diseases, and Regenerative Medicine Products for Rare Diseases” based on the Act on Securing the Quality, Efficacy, and Safety of Pharmaceuticals, Medical Devices, and Other Products (Pharmaceuticals and Medical Devices Act),the designation criteria are defined as follows: “the number of affected patients in Japan must be fewer than 50,000; there must be a high medical need; and the likelihood of successful development must be high.” In the United States, the threshold is fewer than 200,000 patients, while in Europe, one of the criteria is fewer than 5 patients per 10,000 people.Furthermore,

these conditions

are characterized not only by a small patient population but also by high severity and an unknown pathogenesis, making the development of treatments difficult and limiting the availability of effective therapies.

What Are Intractable Diseases and

?] According to the Act on Medical Care, etc., for Patients with Intractable Diseases (Intractable Diseases Act),“rare diseases for which the pathogenesis is unclear, for which no established treatment methods exist, and which require long-term medical care.” Among these, “designated intractable diseases” are defined as “those intractable diseases that meet all of the following requirements and, given the circumstances of the patients, are deemed to have a high need for ensuring high-quality and appropriate medical care;and are designated by the Minister of Health, Labor and Welfare after consulting with the Health and Science Council: the number of patients in Japan must not reach a certain threshold (a number equivalent to approximately one-thousandth (0.1%) of the population); and objective diagnostic criteria (or equivalent standards) must be established.”As of April 1, 2025, there are 348 designated intractable diseases.