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.
"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 |