Top News Rare Disease Day 2024 Symposium" held by the Pharmaceutical Manufacturers Association of Japan

Kazuhiko Mori, Executive Director, Pharmaceutical Manufacturers Association of Japan

The Pharmaceutical Manufacturers Association of Japan (PMAJ) is an industry organization of 71 R&D-oriented companies. PMAJ believes that it is important to understand the wishes and concerns of patients and has established the Intractable and Rare Diseases Task Force, which is working to resolve these issues.

We are pleased to hold this symposium for the first time as an activity of the Pharmaceutical Manufacturers Association of Japan in connection with Rare Disease Day, and we hope that through these specific efforts, we will be able to take on board the wishes of the various parties involved, especially patients and their families.

Efforts of the Task Force on Intractable and Rare Diseases

Masahiro Ishida, Leader, Task Force on Intractable and Rare Diseases, Industrial Policy Committee, Pharmaceutical Manufacturers Association of Japan

In order to understand the issues faced by patients with intractable and rare diseases, we conducted a "Survey on the Problems of Patients with Rare Diseases". From the various issues identified in the survey, we focused on three issues of particular importance and compiled "Recommendations on Intractable and Rare Diseases.

To address the issue of "little information and difficulties in obtaining necessary information," it is necessary to discuss countermeasures in cooperation with the government and related parties, and we are studying a new mechanism for patients to easily obtain clinical trial information in cooperation with the Intractable Disease Control Section of the Ministry of Health, Labour and Welfare.

For" and "with" patients

(Ms. Yukiko Nishimura, President, ASrid, a non-profit organization / Association for the creation of a society where everyone has easy access to clinical trials)

ASrid, a non-profit organization (NPO), acts as an intermediary in the field of rare and intractable diseases, connecting related parties in response to issues and conducting surveys and research to build the necessary evidence.

The mission of the "Society for Creating a Society in which Clinical Trials are Accessible to All" is to "make proposals and disseminate information aimed at improving access to clinical trial information for patients/families/medical professionals and reflect them in medical practice and policy," and its vision is to "make clinical trial information 'visible' to all and create an environment in which clinical trials are accessible to patients/families/medical professionals/researchers. Our vision is to "visualize clinical trial information for everyone and create an environment where patients/families/medical professionals/researchers can easily access clinical trials. We discuss with all concerned parties whether the vast amount of specialized information is being delivered properly, correctly, and in an easy-to-understand manner, and work to communicate requests appropriately. In January 2024, the jRCT was actually revised, and the screens and search methods were made easier to understand. We believe that conveying requests from different angles to the measures being implemented by the government will lead to appropriate renovations, and it will be necessary for all parties involved to continue exchanging opinions. We would like to continue the cycle of thinking together with patients and conveying information together with everyone (concerned parties) for the benefit of patients.

Challenges and Efforts Concerning Intractable and Rare Diseases - From the Standpoint of Family Associations

Mr. Kenta Nanri, Potocki-Lupski Syndrome Family Association

Potocki-Lupski syndrome is a rare disease with 10 patients in Japan (1.5 to 17 years old), and its main symptoms include developmental delays such as lack of speech and growth failure. Some of the issues that we feel are related to this rare disease are "lack of treatment methods (therapeutic drugs and data on medical treatment and education)," "lack of information," "lack of awareness in the surrounding community," and "difficulty in managing family associations (lack of manpower and funds).

Thinking about what we as parents can do for our children, we consulted with Dr. Toshiyuki Yamamoto, Professor of the Department of Genome Medicine at the Center for Gene Medicine, Tokyo Women's Medical University, who is conducting research on Potocki-Lupski syndrome, and established a family group for the purpose of sharing information and adding the disease to the list of designated incurable diseases. Currently, we are engaged in activities such as group lines, online social gatherings, and website development. In addition, based on the experience that there were no vacancies when we looked for after-school day care services when our child entered elementary school, I worked with my wife to raise funds and start "Child Development Support After School Day Care Service HITONOWA Minami-Oizumi Classroom".

Challenges surrounding rare diseases -MHLW's efforts

Mr. Shohei Yamada, Director, Intractable Disease Control Division, Health and Welfare Bureau, Ministry of Health, Labour and Welfare

The government's decision to promote measures against intractable diseases was triggered by the outbreak of SMON that began in 1964, and the 1972 Outline of Measures against Intractable Diseases stipulated the following measures: 1) promotion of research and investigation, 2) development of medical facilities, and 3) elimination of the co-payment of medical expenses. In 1974 (Showa 49), the number of beneficiaries was approximately 17,000, but in recent years the number has increased to approximately 1 million.

In the past, the program was implemented within the scope of the budget, but in the 2008's, the budget for measures against intractable diseases was increased using the consumption tax as a source of funding, and now stands at about 200 billion yen.

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