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
Study on establishment of integrated preoperative training system and certification program for pediatric endoscopic surgery for avoidance of on the job training Hiroo Uchida Port simulation Mediastinal tumor
Standardization of sampling methods of biological samples (e.g., feces, intestinal mucosa) and analysis methods (particularly, metagenomic analysis and metabolomic analysis) and establishment of the integrated information basis including clinical information Shinichi Yachida Centralized management of biological samples and integrated information basis of medical information for “elucidation of the new mechanism linking between medicine and food and development of disease control” Cancer, inflammatory bowel disease, multiple sclerosis and lifestyle-related diseases including diabetes mellitus
Development study of the world’s first early diagnostic marker and treatment by integration of clinical study on peripartum cardiomyopathy (omics and biochemical analysis) and basic research (model animals) Chizuko Kamiya PREACHER Peripartum cardiomyopathy
Identification of susceptibility gene for central hypersomnia and elucidation of pathology with the integrated genetic analysis Taku Miyagawa Identification and functional analysis of susceptibility genes for narcolepsy and sleep disorders Central hypersomnia: idiopathic hypersomnia, essential hypersomnia, narcolepsy, etc.
Fatty acid intake and elucidation of pathology of inflammatory bowel diseases Tomohisa Sujino Intestinal bacteria analysis of patients with inflammatory bowel diseases Inflammatory bowel diseasesHealthy individuals
Investigation of drug discovery seeds for polycystic kidney with iPS cell models Kenji Osafune ADPKD,ARPKD
“Development of innovative treatment for neuromuscular system degeneration of spinal and bulbar atrophy“ Masahisa Katsuno Registry for analysis of neuromuscular disease biomarkers Spinal and bulbar muscular atrophy, amyotrophic lateral sclerosis
Study on elucidation of ossification control mechanism and development of treatment for ossification of the posterior longitudinal ligament Morio Matsumoto Ossification of the posterior longitudinal ligament Ossification of the posterior longitudinal ligament
Developmental study on treatment of familial Mediterranean fever (FMF) and abnormal inflammasome signaling with genomic drug discovery Atsushi Kawakami Familial Mediterranean Fever (FMF) Biobank Familial Mediterranean fever (FMF) (including suspected and atypical cases)
Development of new treatments for geneme instability syndromes using synthetic oligonucleotides and functional short peptides Tomoo Ogi Registry of patients with genome instability disorders Genome instability syndromes caused by defects in DNA repair and DNA damage response, such as xeroderma pigmentosum, Cockayne syndrome, Seckel syndrome, UV-sensitive syndrome, primary microcephaly, Li-Fraumeni syndrome, juvenile and familial tumors, familial thyroid cancer, familial adenomatous goiter, RecQ helicase gene disorders, Werner syndrome, Bloom syndrome, Rothmund-Thomson syndrome, congenital immunodeficiency, progeria, Fanconi anemia, other neurodegenerative diseases, etc.

"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