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
Investigation of treatment drugs and development of rapid diagnostics for abnormal DNA methylation associated with abnormal histone modifying enzyme Koichiro Yoshiura Samples of patients with Kabuki syndrome and similar diseases Kabuki syndrome and similar diseases
Development of gene therapy for cerebellar ataxia based on molecular pathology Hitoshi Okazawa SCA1
All-Japan clinical trial on the World’s first Japanese-origin treatment drug for mitochondrial diseases MA-5 Takaaki Abe Mitochondrial disease registry at Tohoku University and cooperating institutions Mitochondrial diseases
An investigator-initiated clinical trial of rituximab in patients with steroid resistant pemphigus Masayuki Amagai Registry study on patients with pemphigus Pemphigus
An investigator-initiated clinical trial of tocilizumab for familial Mediterranean fever (FMF) developed from seeds exploratory research Atsushi Kawakami Familial Mediterranean Fever (FMF) Biobank Familial Mediterranean Fever (FMF)
Study on eosinophilic gastrointestinal disorders, radical treatment of severe persistent cases, and development of evidence for 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
Development of evidence for deep brain stimulation (DBS) for refractory Tourette’s syndrome Yukiko Kano Refractory Tourette's syndrome Refractory Tourette's syndrome
Study on development of evidence for standardization of treatment for congenital diaphragmatic hernia Hiroomi Okuyama Case registration of congenital diaphragmatic hernia study group Congenital diaphragmatic hernia
Study on development of evidence directly connected with treatment of pulmonary alveolar proteinosis: diagnosis, treatment and management of severe intractable cases Yoshikazu Inoue Establishment of basic database of pulmonary alveolar proteinosis Pulmonary alveolar proteinosis
Study on development of cloud-based integrated database and interactive diagnostic system for improvement of diagnostic accuracy and development of evidence for idiopathic interstitial pneumonia Takafumi Suda Integrated registry of clinical, image and pathological data of idiopathic interstitial pneumonia Idiopathic interstitial pneumonia

"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