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
A follow-up study on cross-sectional etiologic factors, treatment and prognosis of idiopathic pure sudomotor failure Hiroo Yokozeki QOL survey and assessment of heath conditions of sudomotor failure Idiopathic pure sudomotor failure
A QOL study on adult patients with skeletal diseases Hiroshi Kitoh Registry of patients with achondroplasia (hypochondroplasia)
Study on ADL improvement of patients with intractable diseases by utilization of welfare services Reiko Fukatsu Patients with intractable diseases receiving work-based welfare services Ossification of posterior longitudinal ligament, myelomeningitis, neurofibromatosis, pigmentary retinal degeneration, lumbar spinal canal stenosis, extensive spinal canal stenosis, spastic paraplegia, Sjögren syndrome, myotonic dystrophy
Healthcare infrastructure study group for adult-onset leukoencephalopathy Osamu Onodera Registry of adult-onset leukoencephalopathy Adult-onset leukoencephalopathy
Study on registration of patients with interstitial cystitis and practice guidelines Yukio Homma Registry of patients with interstitial cystitis Interstitial cystitis
Study on epidemiology, clinical characteristics, diagnosis and treatment guidelines of Hyperekplexia Takeshi Taketani Hyperekplexia
Study on healthcare infrastructure for ataxias Hidehiro Mizusawa Japan Consortium of Ataxias (J-CAT) Spinocerebellar degeneration
Study on rare epilepsy Yushi Inoue Registry of rare epilepsy syndrome (RES-R) Epilepsy
Study on establishment of standard diagnosis and treatment for intractable coroneal diseases Koji Nishida Registry of gelatinous droplike corneal dystrophy Gelatinous droplike corneal dystrophy
Study on establishment of diagnostic criteria, classification of degree of severity and practice guidelines for primary immunodeficiency diseases Shigeaki Nonoyama Primary Immunodeficiency Database in Japan (PIDJ) Primary immunodeficiency diseases