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
First-in-human clinical study on iPS cell-derived corneal epithelial cell sheet Koji Nishida Corneal epithelial stem cell deficiency
A multicenter investigator-initiated clinical trial on yeast-derived recombinant GM-CSF inhalation for autoimmune alveolar proteinosis Koh Nakata Follow-up database for APAP patients after Leukine inhalation therapy Autoimmune alveolar proteinosis
Long-term trial under compassionate use of anti-CCR4 antibody, a breakthrough treatment for HAM Yoshihisa Yamano HAM net HTLV-1 associated myelopathy (HAM)
Development of drugs containing medium chain fatty acid for triglyceride deposit cardiomyovasculopathy Kenichi Hirano International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases Neutral lipid storage disease (NLSD), triglyceride deposit cardiomyovasculopathy (TGCV)
An investigator-initiated clinical trial to verify usefulness and safety of treatment drug for intractable neurological disease OCH-NCNP for intractable Crohn’s disease Takanori Kanai Inflammatory bowel disease database Crohn’s disease, ulcerative colitis, intestinal Behcet's disease
Study on development of the diagnostic system with next-generation sequencer for rare inherited pediatric blood disorders Seiji Kojima Rare inherited pediatric blood disorder registry Rare inherited pediatric blood disorders
Practical application of methylation in vitro diagnostics and involvement of reproductive technology in congenital genome imprinting disorders Takahiro Arima Practical application of methylation in vitro diagnostics and involvement of reproductive technology in congenital genome imprinting disorders Beckwith-Wiedemann syndrome (BWS), Angelman syndrome (AS), Prader-Willi syndrome (PWS), Silver-Russell syndrome (SRS)
Elucidation of pathological conditions of D4ST1-deficient Ehlers-Danlos syndrome and development of treatment Tomoki Kosho DDEDS registry D4ST1-deficient Ehlers-Danlos syndrome (DDEDS)
Development of tests for identification of causative food of eosinophilic gastrointestinal disorders Kenji Matsumoto Online sheet (B site) for eosinophilic gastrointestinal disorders and food protein-induced enterocolitis syndrome in neonates and infants Eosinophilic gastrointestinal disorders
Study on natural history of multiple system atrophy and its modifiers Hidenao Sasaki HoRC-MSA Multiple system atrophy

"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