This website was established by TRI with the support of Practical Research Project for Rare/Intractable Diseases.
The Practical Research Project for Rare/Intractable Disease aims to support researchers to better understand factors that underpin rare and intractable diseases, and to develop innovative treatments and cures. This initiative promotes collaboration across the continuum: from clinical practice, to the health system, and through to regulatory processes to improve integration for diagnosis and treatments.
Four criteria are used in the Japanese health system to describe a ‘rare and intractable’ disease: it is rare, the cause is unknown, there is no established treatment, and it requires long-term care.
New connections for innovation
Patients with a rare disease face difficulties in diagnosis, finding effective treatment, and isolation as, by definition, there are few people suffering from the same condition. These rare and intractable conditions are known in Japan as Nan-Byo, which means difficult+illness, because they place a heavy burden on individuals, and families who care for them, in obtaining diagnosis and treatment.
But there is power in knowledge: the Practical Research Project for Rare/Intractable Diseases aims to identify existing knowledge and knowledge gaps by standardizing and combining information from those experiencing rare diseases and from research and health professionals to. Better connections between these groups can improve understanding of these difficult conditions and lead to better integrated research, diagnoses, policies and services for patients and their families.
Improvements from clinical practice to regulation
This program aims to deliver practical benefits to improve the quality of life for patients. It will do this through better information that improves clinical practice as well as supports a more efficient process for the regulatory approval of new or repurposed drugs and medical devices.
A suite of programs
Programs in the Practical Research Project for Rare/Intractable Disease are:
- Pathology of Rare Diseases, which considers the mechanisms and pathology of disease.
- Application of Pharmaceuticals and Medical Devices for Rare Diseases, which aims to take promising ideas for treatments through to clinical use.
- Improved Clinical Practice for Rare Diseases, which aims to optimise treatment methods through review of existing practices.
- Treatment of Rare Refractory Diseases through Omics Analysis, which analyses patient data to better understand onset of, and potential treatment for, rare eye diseases.
- Initiative on Rare and Undiagnosed Diseases (IRUD), which provides the overarching healthcare delivery for rare diseases.
- IRUD Beyond, which includes specific strategies to improve diagnoses, genotyping and support for international collaboration and fostering early career investigators.
- Platform for Rare/Intractable Diseases that includes a registry of diseases and associated clinical information.
- Technologies for Novel Therapies for Rare Diseases, which develops gene therapy drugs or nucleic acid drug development for rare intractable disease
- Production of Trial Vectors used in Novel Therapy for Rare Diseases, which will develop a manufacturing facility to trial vectors for use in treatment.
- Research into Links Between Medicine, Food and Rare Diseases, which considers physiological aspects of the disease
Under the AMED umbrella
Established in 2014, the Practical Research Project for Rare/Intractable Disease builds on Japan’s long history, since 1972, of taking measures to research and provide services for rare diseases. The Project was developed under AMED, and so has strong links to higher tiers of government that provides important connections to public health agencies. This ensures that there is broad oversight of rare diseases as well as building support across the healthcare system.