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.
"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 to clarify the clinical basis of congenital hypomyelinating leukodystrophy | Ken Inoue | Registration system of all patients with congenital hypomyelinating leukodystrophy with IBISS | Congenital hypomyelinating leukodystrophy |
| Study on development of practice evidence of Charcot-Marie-Tooth disease and establishment of the clinical study basis | Masanori Nakagawa | CMTPR | Charcot-Marie-Tooth disease |
| Study on development of evidence for revision of guidelines for diseases for newborn mass screening | Toshiyuki Fukao | Registry for diseases for newborn mass screening | Diseases for newborn mass screening |
| Elucidation of etiology and pathological mechanisms of hereditary retinochoroidal diseases, familial glaucoma and congenital optic nerve atrophy by omics analysis | Takeshi Iwata | Hereditary chorioretinal disease group (36 diseases), familial glaucoma, familial optic atrophy |
"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.