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 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