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 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