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.

“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
First-in-human clinical study on iPS cell-derived corneal epithelial cell sheet Koji Nishida Corneal epithelial stem cell deficiency
A multicenter investigator-initiated clinical trial on yeast-derived recombinant GM-CSF inhalation for autoimmune alveolar proteinosis Koh Nakata Follow-up database for APAP patients after Leukine inhalation therapy Autoimmune alveolar proteinosis
Long-term trial under compassionate use of anti-CCR4 antibody, a breakthrough treatment for HAM Yoshihisa Yamano HAM net HTLV-1 associated myelopathy (HAM)
Development of drugs containing medium chain fatty acid for triglyceride deposit cardiomyovasculopathy Kenichi Hirano International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases Neutral lipid storage disease (NLSD), triglyceride deposit cardiomyovasculopathy (TGCV)
An investigator-initiated clinical trial to verify usefulness and safety of treatment drug for intractable neurological disease OCH-NCNP for intractable Crohn’s disease Takanori Kanai Inflammatory bowel disease database Crohn’s disease, ulcerative colitis, intestinal Behcet's disease
Study on development of the diagnostic system with next-generation sequencer for rare inherited pediatric blood disorders Seiji Kojima Rare inherited pediatric blood disorder registry Rare inherited pediatric blood disorders
Practical application of methylation in vitro diagnostics and involvement of reproductive technology in congenital genome imprinting disorders Takahiro Arima Practical application of methylation in vitro diagnostics and involvement of reproductive technology in congenital genome imprinting disorders Beckwith-Wiedemann syndrome (BWS), Angelman syndrome (AS), Prader-Willi syndrome (PWS), Silver-Russell syndrome (SRS)
Elucidation of pathological conditions of D4ST1-deficient Ehlers-Danlos syndrome and development of treatment Tomoki Kosho DDEDS registry D4ST1-deficient Ehlers-Danlos syndrome (DDEDS)
Development of tests for identification of causative food of eosinophilic gastrointestinal disorders Kenji Matsumoto Online sheet (B site) for eosinophilic gastrointestinal disorders and food protein-induced enterocolitis syndrome in neonates and infants Eosinophilic gastrointestinal disorders
Study on natural history of multiple system atrophy and its modifiers Hidenao Sasaki HoRC-MSA Multiple system 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.

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