Proposal on Intractable and Rare Diseases Based on a Survey of Healthcare Professionals' Concerns
February 06, 2026
Undiagnosed Diseases Initiative
Japan Consortium for Rare Diseases
Japan Pharmaceutical Manufacturers Association
The Initiative on Rare and Undiagnosed Diseases (IRUD), the Rare Disease Consortium Japan (RDCJ), and the Japan Pharmaceutical Manufacturers Association (JPMA) are pleased to announce that they have collaborated on the "Proposal on Intractable and Rare Diseases Based on a Survey of Healthcare Professionals' Concerns. (hereafter referred to as the "Pharmaceutical Manufacturers Association of Japan (hereafter referred to as the "Pharmaceutical Manufacturers Association")) have collaborated to develop a "Proposal on Intractable and Rare Diseases Based on a Survey of Concerns of Healthcare Professionals" and have published it on their website.
This proposal is based on the results of the "Survey on the problems of healthcare professionals in rare diseases" conducted by IRUD, RDCJ, and JPMA in 2024, and summarizes the direction of problem solving.
Through this publication, we hope that the co-creation of various stakeholders, including healthcare professionals, academic societies, patient groups, government, and pharmaceutical/other industries, will contribute to the realization of a society in which more patients with intractable and rare diseases can live with peace of mind as soon as possible.
IRUD https://plaza.umin.ac.jp/irud /recent_developments.php#date20241107
JPMA https://www.jpma .or.jp/information/industrial_policy/rare_diseases/teigen/index.html
Reference
Survey on the problems of healthcare professionals in rare diseases
What are rare diseases?
Although the number of patients with rare diseases is small, more than 7,000 rare diseases have been identified worldwide, and the total number of patients is estimated to be as high as 300 million. Although definitions differ from country to country, according to the "Orphan Drug, Orphan Medical Device, and Orphan Regenerative Medicine Product Designation System" based on the Law Concerning Quality, Efficacy, and Safety Assurance of Pharmaceuticals, Medical Devices, etc. (Pharmaceutical Affairs Law), the requirements for designation are that "the number of eligible patients is less than 50,000 in Japan The requirements for designation are: "the number of target patients is less than 50,000 in Japan," "there is a high medical need for the product," and "the product has a high potential for development. In the U.S., the number of patients is less than 200,000, and in Europe, the number of patients per 10,000 population is less than 5. In addition to the small number of patients, the disease is characterized by its high severity and the fact that the mechanism of pathogenesis is unknown, making the development of treatment methods difficult and limiting effective therapies.
According to the Law Concerning Medical Care for Patients with Intractable Diseases (Intractable Disease Law), an intractable disease is "a rare disease for which the mechanism of pathogenesis is unknown and treatment methods have not been established, and which requires long-term medical care. The Minister of Health, Labour and Welfare, after hearing the opinion of the Health Sciences Council, designates those intractable diseases that meet all of the following requirements as those for which there is a high need to ensure quality and appropriate medical care in view of the conditions in which the patients are placed: The number of patients must not reach a certain number in Japan (approximately 1/1000 (0.1%) of the population). Objective diagnostic criteria (or its equivalent) must be established. As of April 1, 2025, there are 348 designated intractable diseases.