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
Multisciplinary study on understanding of the current status and improvement of prognosis of progeria Kotaro Yokote Werner syndrome registry Werner syndrome
A case control study on elucidation of factors related to onset and prevention of ulcerative colitis Yoshihiro Miyake Japan Ulcerative Colitis Study Ulcerative colitis
Continuation of the early laboratory diagnostic study and preparation of diagnostic guidelines for perinatal (peripartum) cardiomyopathy Chizuko Kamiya PREACHER Peripartum cardiomyopathy
An epidemiological study on Erdheim-Chester disease Mineo Kurokawa An epidemiological study on Erdheim-Chester disease Erdheim-Chester disease
Construction of the registration system, national survay and establishment of early diagnostic method of inherited GPI deficiency Yoshiko Murakami Registration form of patients with inherited GPI-anchor deficiency (IGD) Inherited glucosylphosphatidylinositol (GPI) deficiency
Establishment of diagnostic criteria and classification of degree of severity of acquired von Willebrand syndrome associated with incurable cardiovascular diseases Hisanori Horiuchi The AVeC Study registry Acquired von Willerbrand syndrome associated with cardiovascular diseases
Study of establishment of treatment based on varied pathogenesis of acute rupture of chordae tendineae of the mitral valve in infants Isao Shiraishi Registry of acute rupture of chordae tendineae of the mitral valve in infants Acute rupture of chordae tendineae of the mitral valve in infants
A clinical study on treatable intellectual disability syndrome most commonly characterized by cerebral creatine deficiency syndromes Takahito Wada Registration system of patients with X-linked α-thalassemia/intellectual disability syndrome (ATR-X) ATR-X syndrome
Preparation of practice guidelines for HAM and HTLV 1-positive refractory diseases based on international consensus Yoshihisa Yamano HAM net HTLV-1 associated myelopathy (HAM)
Preparation of treatment guidelines considering pregnancy and delivery of female patients with rheumatoid arthritis (RA) and inflammatory bowel disease (IBD) Shigeru Saito A national questionnaire survey on obstetric institutions regarding pregnancy with systemic lupus erythematosus (SLE), rheumatoid arthritis (RA) and inflammatory bowel disease (IBD) of patients in reproductive age SLE, rheumatoid arthritis, inflammatory bowel disease