East meets West as the sun rises higher for rare disease patients in Japan
In mid-January, stakeholders from Japan’s Health Ministry, National Institute of Public Health, and academia, met in Tokyo with Ségolène Aymé, director of Orphanet, the pan-European rare disease and orphan drug information and reference portal, and current Chair of the European Union Committee of Experts on Rare Diseases (EUCERD). The encounter is part of Japan's ongoing explorations of how to optimise resources for rare diseases, and follows a visit in 2009 to relevant stakeholders in the USA, and a tour of European countries in October 2010 – including a visit to the Orphanet offices in Paris, France, as well as meetings with other rare disease stakeholders in Belgium, Denmark, France, Sweden and the United Kingdom. The weeklong exchange in Japan with Ségolène Aymé allowed for rich discussions on both the Japanese and European perspectives of how to best serve the various and often complex needs of rare disease patients. In attendance were Dr. Yoshio Namba, Director of the Specific Disease Division, Ministry of Health, Labour and Welfare; Kenji Hayashi, MD, President of the National Institute of Public Health; Tomoko Kodama, MD, Project Officer of the Rare and Intractable Diseases Project; Ichiro Kanazawa, MD, the Chair of the Committee on Rare/Intractable diseases (Nanbyo) at the Ministry of Health, Labour and Welfare and Medical Supervisor for Royal Families, Imperial Household Agency; and Yasuo Itoyama, MD, Director General of the National Center of Neurology and Psychiatry.
Japan bears the distinction of having the oldest programme for rare disease research and care in the world. Established in 1972, the Medical Care Program for Specific Diseases encompasses “Nanbyo” (Intractable Diseases) and the closely-related “Tokutei Shikkan” (Specified Rare and Intractable Diseases). The word “Nanbyo” can be understood by its two syllables: “Nan” meaning something difficult or worrying; and “Byo” being the Japanese word for “disease”. Japan’s Nanbyo programme can thus include any troubling, untreated disorder, though the vast majority of conditions it accepts – determined by a consultative committee - are rare. While historically infectious diseases such as cholera or tuberculosis were considered Nanbyo, today the intractable diseases are defined as those “…that have resulted from an unidentifiable cause and, without a clearly established treatment, have a considerably high risk of disability” and “…that chronically develop and require a significant amount of labor for the patient’s care, causing a heavy burden on other family members of the patient, both financially and mentally”. Requests for inclusion can come from medical professionals as well as the patient organisations. Diseases taken up under the programme receive funding for research and allow patients full health coverage. Currently, of the 130 disease groups covered under the Nanbyo programme for clinical research, 56 diseases in the Tokutei Shikkan programme receive specific subsidiaries from public funding, include Behcet disease, pemphigus, the lysosomal storage diseases, retinitis pigmentosa, and acromegaly. Some 650,000 patients benefit from medical expense support in Japan. Learn more
No man is an island…
Many countries that have formerly operated autonomous research and health programmes can no longer afford to do so in face of the enormous financial and resource challenges the rare diseases impose. Japan is one of many countries exploring cooperative strategies and initiatives for better managing rare diseases and orphan drugs. The European Council Recommendation on an action in the field of rare diseases and the successful termination of the first term of the French rare disease plan – considered a model - is inspiring other countries around the world. Coupled with the expanding development of medicinal products for rare diseases contributing to rising costs for countries’ health systems, Japan, like other nations, is trying to streamline expenses. Japan, which has been insular in its research and drug programmes for rare diseases, recognises the advantage of global collaboration and cooperation, particularly in the field of research. Steps forward include negotiations toward a partnership with rare disease and orphan drug information portal Orphanet – which would allow for Japanese translation of the site’s database of information on rare diseases and orphan drugs, and enable information on Japanese resources to be added. Another forward movement is Japan’s possible participation in an upcoming meeting between stakeholders from US and European rare disease research programmes (learn more). Also, the European Union Committee of Experts on Rare Diseases (EUCERD) is planning to invite Japan to join as an observer.
These are exciting times for rare disease patients, researchers, and other stakeholders alike, as more and more countries bring their unique experiences, talents and perspectives to the table to work together on behalf of rare disease patients and their families in all countries.