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.

"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 intractable hemangioma, vascular malformation, lymphangioma, lymphangiomatosis and related diseases Sadanori Akita National epidemiological survey Hemangioma, vascular malformation
Study on health care policy for rare intractable chronic gastrointestinal disorders from childhood to accelerated phase and adulthood Tomoaki Taguchi Giant hepatic hemangioma in infants Giant hepatic hemangioma in infants
Study on intractable vasculitis Masatoshi Harigai RemIT-JAV and RemIT-JAV-RPGN microscopic polyangiitis,granulomatosis with polyangiitis,eosinophilic granulomatosis with polyangiitis,unclassifiable ANCA associated vasculitis
Study on revision of diagnostic criteria and classification of degree of severity, and establishment of diagnosis and therapeutic guidelines for Castleman's disease and TAFRO syndrome presenting noncancerous, chronic inflammatory lymph node and bone marrow abnormalities Kazuyuki Yoshizaki Study on the survey on the actual status of epidemiology and practice of Castleman disease Castleman disease
Study on establishment of national medical system, classification of disease severity, and clinical practice guidelines for autoinflammatory and related diseases Toshio Heike Registration system of patients with autoinflammatory diseases Autoinflammatory diseases
Establishment of cross-sectional medical system related to neurocutaneous syndrome Chikako Nishigori Xeroderma pigmentosum
Study on idiopathic hematopoietic disorders Kinuko Mitani Prospective case registration, central review and follow-up study on aplastic anemia and myelodysplastic syndrome Aplastic anemia, myelodysplastic syndrome, nondiagnostic cytopenia
Study on intractable respiratory diseases and pulmonary hypertension Koichiro Tatsumi Japan Respiratory Pulmonary Hypertension Study (JRPHS) Pulmonary hypertension associated with respiratory diseases
Study on severe multiform exudative erythema Eishin Morita Analysis of genetic polymorphism and etiological factors of drug eruption Severe cutaneous adverse reaction
Study group for rare intractable myopathy Masahi Aoki REMUDY GNE myopathy