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 development of clinical basis for promotion of treatment for fragile X syndrome and fragile X-associated tremor ataxia syndrome Kaori Adachi Fragile X syndrome and related disease registry Fragile X syndrome and related diseases
A cohort study on evaluation of effect and safety of long-term oral administration of Rapamycin for Lymphangioleiomyomatosis Toshinori Takada Cohort study on lymphangioleiomyomatosis Lymphangioleiomyomatosis
Study on development of serological diagnosis for prevention of eosinophilic gastrointestinal disorders and growth and development disorders 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 biomarkers and elucidation of natural history by the multicenter cohort study on progressive supranuclear palsy and related diseases Takeshi Ikeuchi JALPAC: Japanese Longitudinal Biomarker Study of PSP and CBD Progressive supranuclear palsy / corticobasal degeneration
Study on elucidation of glial function and preparation of practice guidelines in pathology of intractable epilepsy Taketoshi Maehara Elucidation of pathology of cerebral diseases and physiological brain function by clinical EEG data Intractable epilepsy
Strategic study on development of evidence for medical care for intractable vasculitis Yoshihiro Arimura A prospective cohort study on rituximab in ANCA-associated vasculitis Microscopic polyangiitis, granulomatosis with polyangiitis
Japan Primary Aldosteronism Study (JPAS) Mitsuhide Naruse PA registry Primary aldosteronism (only cases with adrenal vein sampling data)
“Development of medical information integration system for patient education and total life care of congenital heart diseases” Akiko Chishaki A retrospective study on elucidation of peripartum management issues in adult congenital heart diseases Adult congenital heart diseases
Development of evidence of EB virus DNA loads for improvement of diagnostic and therapeutic effect evaluation of chronic active EB viral infection and related diseases Yoshinori Ito Chronic active EB viral infection and related diseases
Development of evidence through the nation-wide survey on progeroid Werner syndrome and establishment of the case registration system Koutaro Yokote Werner syndrome registry Werner syndrome

"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