Registry List

List of intractable disease registry projects

This is a list of registry projects supported by the Practical Research Project for Rare/Intractable Diseases from the Japan Agency for Medical Research and Development (AMED) and the Research Project on Rare/Intractable Disease from the Ministry of Health, Labour and Welfare (MHLW).
The list contains the research titles approved for public release based on an online questionnaire sent to approximately 300 research groups, conducted by the Japan Agency for Medical Research and Development (AMED) in August 2017.

Search List of intractable disease registries

"The Practical Research Project for Rare/Intractable Diseases" of AMED

The objectives of the Practical Research Project for Rare/Intractable Diseases are to elucidate the disease etiology and pathology, to promote the development of innovative diagnostics and therapeutics, and to improve the medical standard for all patients, for intractable diseases that meet the following four criteria: unknown mechanism of onset, lack of established treatments, defined as a rare disease, and requiring long-term medical care.

Study title Name of principal
investigator		 Registry name Target disease
Study on development of clinical basis for promotion of treatment for fragile X syndrome and fragile X-associated tremor ataxia syndrome Kaori Adachi Fragile X syndrome and related disease registry Fragile X syndrome and related diseases
A cohort study on evaluation of effect and safety of long-term oral administration of Rapamycin for Lymphangioleiomyomatosis Toshinori Takada Cohort study on lymphangioleiomyomatosis Lymphangioleiomyomatosis
Study on development of serological diagnosis for prevention of eosinophilic gastrointestinal disorders and growth and development disorders Ichiro Nomura Online sheet (B site) for eosinophilic gastrointestinal disorders and food protein-induced enterocolitis syndrome in neonates and infants Eosinophilic gastrointestinal disorders
Development of biomarkers and elucidation of natural history by the multicenter cohort study on progressive supranuclear palsy and related diseases Takeshi Ikeuchi JALPAC: Japanese Longitudinal Biomarker Study of PSP and CBD Progressive supranuclear palsy / corticobasal degeneration
Study on elucidation of glial function and preparation of practice guidelines in pathology of intractable epilepsy Taketoshi Maehara Elucidation of pathology of cerebral diseases and physiological brain function by clinical EEG data Intractable epilepsy
Strategic study on development of evidence for medical care for intractable vasculitis Yoshihiro Arimura A prospective cohort study on rituximab in ANCA-associated vasculitis Microscopic polyangiitis, granulomatosis with polyangiitis
Japan Primary Aldosteronism Study (JPAS) Mitsuhide Naruse PA registry Primary aldosteronism (only cases with adrenal vein sampling data)
“Development of medical information integration system for patient education and total life care of congenital heart diseases” Akiko Chishaki A retrospective study on elucidation of peripartum management issues in adult congenital heart diseases Adult congenital heart diseases
Development of evidence of EB virus DNA loads for improvement of diagnostic and therapeutic effect evaluation of chronic active EB viral infection and related diseases Yoshinori Ito Chronic active EB viral infection and related diseases
Development of evidence through the nation-wide survey on progeroid Werner syndrome and establishment of the case registration system Koutaro Yokote Werner syndrome registry Werner syndrome

"The Research Project on Rare/Intractable Disease" of MHLW

The Research Project on Rare/Intractable Disease, in cooperation with related research and databases, promote the following for intractable diseases: establishment of a medical system, epidemiological research, public awareness, creation of diagnostic criteria and guidelines, and the improvement in transitional care for adolescent patients from pediatric to adult care.

Study title Name of principal
investigator		 Registry name Target disease
Study on diagnosis and treatment of Moyamoya disease (occlusion of the Circle of Willis) Kiyohiro Houkin Japan Moyamoya Registry Moyamoya disease
Study on idiopathic cardiomyopathy Hiroyuki Tsutsui Idiopathic dilated cardiomyopathy, hypertrophic cardiomyopathy, restrictive cardiomyopathy
Study on prion diseases and slow virus infection Masahito Yamada Epidemiological survey on subacute sclerosing panencephalitis Subacute sclerosing panencephalitis
Intractable Liver and Biliary Diseases Study Group of Japan Hajime Takikawa AIH, PBC, PSC National Survey Registry Autoimmune hepatitis, primary biliary cholangitis, primary sclerosing cholangitis
Study on preparation of practice guidelines and establishment and dissemination of the medical system for congenital respiratory and thoracic dysplasia Noriaki Usui Survey on the actual status of neonatal diaphragmatic hernia Congenital diaphragmatic hernia
Study on establishment of the medical system of radical treatment of eosinophilic gastrointestinal disorders and severe persistent cases, and multi-food elimination diets Ichiro Nomura Online sheet (B site) for eosinophilic gastrointestinal disorders and food protein-induced enterocolitis syndrome in neonates and infants Eosinophilic gastrointestinal disorders
Study on adrenal hormone production abnormality Tomonobu Hasegawa Adrenal hormone production abnormality
Comprehensive study group for genetic rare intractable diseases of the skin Takashi Hashimoto Suppurative hidradenitis