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
Establishment and operation of the database of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) Hidekazu Tomimoto Establishment and operation of the database of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) CADASIL
Preparation of diagnostic guidelines for congenital genome imprinting disorders and safety evaluation of reproductive medicine Takahiro Arima Beckwith-Wiedemann syndrome (BWS), Angelman syndrome (AS), Prader-Willi syndrome (PWS), Silver-Russell syndrome (SRS)
A nation-wide follow-up study toward publication of a practice guideline for adult chronic neutropenia Shigeru Chiba Follow-up study on prognosis of adult chronic neutropenia Adult chronic neutropenia
Preparation of practice guidelines and promotion of clinical study on Kii ALS/PDC Yasumasa Kokubo Kii ALS/PDC registry Kii ALS/PDC
Study on establishing evidence for guidelines for the management of abnormalities in hormonal signaling Takashi Akamizu Thyroid crisis
Development of a new antibody treatment drug for multiple sclerosis Toshihide Yamashita Registry of patients with multiple sclerosis and neuromyelitis optica Multiple sclerosis and neuromyelitis optica
Development of gene therapies for pediatric neurological disorder and congenital metabolic disorders including AADC deficiency Takanori Yamagata Registry of patients with AADC deficiency AADC deficiency
Identification of new responsible genes and pathological analysis of patients who are difficult to diagnosis with primary immunodeficiency Satoshi Okada Exome analysis data of patients with primary immunodeficiency Primary immunodeficiency
Basic research on MIRAGE syndrome toward development of the therapeutic strategies Satoshi Narumi Registry of patients with MIRAGE syndrome MIRAGE syndrome
“Establishment of companion diagnostics and development of new treatment with cardiac acetylcholine-sensitive K+ channel selective inhibitors for hereditary bradycardia intractable disease (Kir3.1/3.4 channelopathy)” Yoshihiro Asano Registry of hereditary bradycardia arrhythmia diseases Hereditary bradycardia arrhythmia diseases

"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