Japanese Agency for Medical Research and Development (AMED)

 
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2018

  • A registry system of patients with ossification of the posterior longitudinal ligament (OPLL)
  • A strategy to optimize treatment options for epidermolysis bullosa
  • Advancing Care of Rare/Intractable Adrenal Diseases in Japan Study
  • Analysis of the mechanism underlying inflammatory RNA-mediated development/exacerbation of SLE and development oftherapeutic strategy targeting inflammatory RNA
  • Clinical and basic research, evidence-based medicine for idiopathic basal ganglia calcification
  • Clinical research, neruoimages and biomaterials on pre-disease cases of genetic prion diseases in order to aim to create early diagnostic criteria for prion diseases
  • Clinical study to practicalize Requip CR tablet as a novel amyotrophic lateral sclerosis (ALS) treatment candidate drug based on iPS cel drug discovery : Phase I / IIa trial
  • Clinical trial of thalidomide for chronic granulomatous disease-associated colitis
  • Comprehensive analysis of immune system for realization of precision medicine of multiple sclerosis
  • Creation of evidence to establish diagnostic criteria and treatment guideline for anti-neurofasctin1 55 antibody- positive chronic inflammatory demyelinating polyneuropathy
  • Designing and development of a widely exploitable registry of rare intractable diseases
  • Developing a novel therapeutic target for Facioscapulohumeral muscular dystrophy
  • Developing antisense ol igonucleotide therapy targeting bidirectional transcription underlying an inherited neurodegenerative disease.
  • Developing the disease specific therapy for ANCA-associated vasculitis focused on immune regulatory factors in neutrophils
  • Development of a neuroprotective treatment based on branched chain amino acids for retinitis pigmentosa
  • Development of a novel animal model for secondary progressive multiple sclerosis and new therapeutic drugs targeting inflammatory glia for progressive multiple sclerosis
  • Development of a novel drug including medium chain faty acids for triglyceride deposit cardiomyovasculpathy
  • Development of a novel therapy for achondroplasia with anti-FGF2 aptamer
  • Development of a predictive method for bleeding complication associated with intractable cardiovascular diseases with high shear-stress
  • Development of an anti-RGM humanized monoclonal antibody for the treatment of multiple sclerosis
  • Development of an innovative treatment of amyotrophic lateral sclerosis (ALS) using hepatocyte growth factor (HGF)
  • Development of anti-fibrotic drug for primary biliary cholangitis
  • Development of artificia1 PDGFR18 -activating dim eric macrocycles that improve the dysregulation of phosphate homeostasis in idiopathic basa1 ganglia calcification
  • Development of diagnostic system for Parkinson’s disease using faty acid metabolites
  • Development of evidence based clinical management for hereditary hearing loss.
  • Development of Gene Therapy for Amyotrophic Lateral Sclerosis based on Molecular Mechanisms
  • Development of gene therapy for cardiac regeneration in dilated cardiomyopathy
  • Development of IL- 1 7A vaccine for spondyloarthritis
  • Development of molecular therapy for non-coding repeat diseases targeting unconventional repeat associated non- ATG (RAN) translation
  • Development of Novel ALK2 Inhibitor for FOP
  • Development of novel RNA medicines for treating muscular diseases using microRNAs capable of inducing muscular differentiation and regeneration
  • Development of novel therapeutic drugs for congenital nephrogenic diabetes insipidus
  • Development of novel therapeutic drugs targeting specific cell death inducing receptor in severe drug eruption
  • Development of novel therapeutic strategies for pulmonary arterial hypertension targeting interleukin-2 1
  • Development of novel therapeutics for Fibrodysplasia Ossficancs Progressiva
  • Development of novel therapeutics of cardiac Fabry disease with the splicing modifier compound.
  • Development of novel therapy for amyotrophic lateral sclerosis by elevated expression of neuroprotective factor Necdin
  • Development of pharmacotherapy of lactic acidosis associated with mitochondrial disorders using sodium pyruvate.
  • Development of simple differential diagnosis support tool for frontetemporal lobar degeneration using large scale cohort
  • Development of valid evidence for clinical practice by establishing registry and biosample repository for patients with progressive supranuclear palsy and related tauopathy
  • Development ofa new molecular targeted therapy for Fukuyama muscular dystrophy
  • Drug development for treating Huntington’s disease based on a novel mechanism of action for practical application
  • Drug discovery for Crohn’s disease based on HDAC isozyme inhibition
  • Elucidation of mechanisms of heterotopic ossification in fibrodysplasia ossificans progressiva considering immunological responses
  • Elucidation of molecular pathogenesis of SLC29A3 disorders
  • Elucidation of the roles of oligodendrocyte precursor cells on the pathogenesis of multiple system atrophy and its clinical application
  • Establishment of appropriate treatment for spinal and bulbar muscular atrophy
  • Establishment of biomarker for predicting therapeutic effect of Disease modifying therapies in multiple sclerosis.
  • Establishment of diagnostic system, registry and sample banking in congenital thrombocytopenia
  • Establishment of diagnostic system, registry and sample banking in congenital thrombocytopenia
  • Establishment of high evidence level for revision of guideline ofAllied Disorders of Hirschsprung’s disease
  • Evidence creation through nationwide surveillance of the progeria syndrome Werner syndrome and establishment ofa case registration system
  • Evidence generation study for the development of guidelines for pharyngeal, laryngeal, tracheal stenosis
  • Fundamental study for the development of a therapeutic strategy for Osteogenesis imperfecta using orally available egg yolk-derived peptides
  • Identification of genes for temporal lobe epilepsy and investigation of pathological cascade
  • “Identifying responsible genes for chromosomal deletion syndromes using
    genome-editing-technology-based screening system on patient-specific-iPSC-based disease models”
  • Implementation of novel cardiomyopathy therapy based on the regulation of chronic inflammation via natural killer T cell activation
  • Initiative on Rare and Undiagnosed Diseases (IRUD)
  • Integrated phenotype-genotype classification of low-grade epilepsy-associated tumors (LEAT) for evidence-based diagnostic guideline
  • Investigation of clinical index for stratifying phenotypes of cardiomyopathy with newly developed nuclear chromatin assessment
  • Investigator initiated trial of adrenomedullin for refractory ulcerative colitis
  • Investigator-initiated clinical research of a JAK1/2 inhibitor ruxolitinib for chronic active Epstein-Bar virus infection
  • Investigator-initiated clinical trial of neuroprotective gene therapy for patients with retinitis pigmentosa
  • Investigator-initiated clinical trial to obtain the efficacy and safety of “local high dose therapy” for intractable skin tumor due to neurofibromatosis type 1 using topical sirolimus gel.
  • Long term clinical trial ofN-acetylneuraminic acid for GNE myopathy
  • Long-term trial under compassionate use of anti-CCR4 antibody, a breakthrough treatment for HAM
  • “Manufacture and quality control, first-in-human feasibility study as investigator
    (doctor)-initiated clinical trial for Okayama University-type retinal prosthesis (OUReP) ”
  • Molecular basis research for exploring inovative therapies of Ret syndrome
  • Multicenter cross-disease registry research around the nation to improve medical practice for rare and intractable diseases causing deafblindness with congenital or early onset.
  • Multicenter Registry for Anticoagulation Therapy in Chronic Thromboembolic Pulmonary Hypertension
  • Multitiered study to address clinical questions for management of intractable vasculitides
  • Natural history of multiple system atrophy and the development of novel biomarkers
  • Novel therapeutic challenge for Parkinson disease accompanied by mutations of alpha-synuclein.
  • Phase II clinical trial of OCH, a new drug for multiple sclerosis
  • Providing evidence for the integrated physical, psychological, and social support of adolescents and young adults (AYA) with intractable diseases by focusing on 22q11.2 deletion syndrome as the model
  • Research and Development: Intravenous Infusion of Pitavastatin-Incorporated PLGA Nanoparticles for Treatment of Patients with Severe PulmonaryArterial Hypertension
  • Research for practical application of an innovative peptide drug for DMD
  • Research for the development of precision medicine for autoimmune diseases
  • Research on natural history of Becker muscular dystrophy for establishment of preventive medicine
  • Screening of novel therapeutics for intellectual disability and autism in tuberous sclerosis complex
  • Statistical genetic analysis of epileptic encephalopathy for identification of new disease genes and understanding ofthe genetic etiology
  • Strategic research for the improvement of the ocular sequelae in SJS/TEN
  • Study aiming at elucidation of the pathoiogy of multiple oongenital anomaly syndrome by utilizing disaases- specifio iPSCs and development of novel treatment methods
  • Study of clinical features and treatment of imprinting disorders and related disorders
  • T cell gene therapy for X-linked hyper IgM syndrome using a modified Cas9-mediated targeted genome editing.
  • Taurine supplementation as a disease modifying therapy in mitochondrial diabetes associated with the A3243G mutation
  • The establishment of evidence for clinical guideline development on HAM and HTLV-1 -related refractory disease through integration ofpatient registry.
  • The establishment of novel diagnostic methods for adult nephrotic syndrome.
  • The investigation on the efficacy of new low molecular compound for systemic sclerosis
  • Unravelling the central nervous system inflammatory pathology and establishing the platform for drug development and presymptomatic diagnosis for Aicardi-Goutieres syndrome using disease-specific iPS cells and disease model mice.

2017

  • A study on creation of clinical evidence and preparation of clinical trial basis for Charcot-Marie-Tooth disease
  • An evidence creation study to be connected directly with pulmonary alveolar proteinosis : Management oftreatment and clinical diagnosis for intractable cases
  • Analysis ofmolecular mechanisms and searching for therapeutic approaches in rare diseases found in the IRUD-P project using genome-editing technologies
  • Clarification of pathophysiological mechanisms for proteasome-associated autoinflammatory syndrome
  • Clarification of the pathological mechanisms of cerebral creatine deficiency syndrome using creatine prodrugs and establishment of the diagnostic and therapeutic strategies
  • Clinical development of high-dose intramuscular methylcobalamin for ALS
  • Clinical research on disorders of sex development and sexual maturation to provide evidence for the guideline development
  • Clinical research on the pathophysiology, diagnosis and management of idiopathic thrombosis in neonates, infants and children
  • Clinical trial of gene therapy for AADC deficiency
  • Comprehensive study for clinical support and making guideline of Rett syndrome and MECP2 duplication syndrome
  • Coordination network for elucidating disease mechanism using model organisms
  • Creation of clinical evidence about multiple-food group elimination diet
    for the treatment of Eosinophilic Gastrointestinal Disorders
  • Creation of comprehensive clinical guidelines on kernicterus of preterm infants
  • Creation of evidence on deep brain stimulation for treatment-refractory Tourette syndrome
  • Decoding the genetic cause of rare primary immunodeficiencies with disease-Decoding the genetic cause of rare primary immunodeficiencies with disease-specific iPS cells
  • Developing new drugs for Niemann-Pick disease type C
  • Development of therapies against Ossification of the Posterior Longitudinal Ligament (OPLL) based on the clarification ofmechanisms underlying hyper osteogenesis
  • Development and standardization of molecular pathological diagnosis for bullous keratopathy
  • Development of A Novel Gene-Targeted Therapy for Alport Syndrome
  • Development of a novel peptide-conjugated phosphorodiamidate morpholino therapy for Duchenne muscular dystrophy
  • Development of anti-mineralization drug
  • Development of cloud-based integrated database and interactive diagnosis system for improving diagnostic accuracy and providing evidence for idiopathic interstitial pneumonias
  • Development of disease-modifying therapies and biomarkers for neuro-conformational diseases targeting aggregation and transmission of prionoid proteins
  • Development of Gene Therapy for Mucopolysaccharidosis Type II
  • Development of genome editing therapy for congenital muscle disease by a novel and transient protein delivery system
  • Development of innovative drug for generalized pustular psoriasis as deficiency of IL-36 receptor antagonist
  • Development of management for acquired von Wilebrand syndrome complicated with mechanical circulatory support
  • Development of novel disease-causing gene based therapies for cardiomyopathies
  • Development of novel mechanism-based medical therapy for progressive familial intrahepatic cholestasis type2using Buphenyl,a drug forurea cycle disorders
  • Development of novel therapeutic modalities for compromised neuromuscular signal transmission and skeletal muscle excitation
  • Development of RAS-related ALPS-like disease (RALD) therapy
  • Development of the platform that contributes to improvement in diagnoses and elucidation ofpathophysiology ofintractable hematological diseases using omics analytics and artificial intelligence
  • Development of therapeutic agents for Fragile X associated tremor/ataxia syndrome (FXTAS)
  • Development of therapeutic drug screening systems for polycystic kidney disease using iPS cell disease models
  • Development of therapeutic strategy for DRPLA based on gene silencing and genome editing.
  • Development of therapy for sporadic ALS from omics analyses using a large-scale clinical database, genomic DNA and immortalized cell repository of Japanese ALS patients
  • Development of vascular patch for radical cure of the tetralogy of Fallot
  • Discovery ofnovel therapeutic approach for Nakajo-Nishimura syndrome and Blau syndrome
  • Drug discovery for intractable hereditary optic neuropathy by use of optic nerve cells generated from human pluripotent stem cells
  • Drug discovery for spinal-bulbar muscular atrophy using disease specific iPSCs
  • Drug discovery targeted to alternative splicing variants in congenital long-QT syndrome
  • Drug Screening and development of rapid diagnostic technique for the DNA methylation abnormality due to the mutation in histone modification enzymes
  • Drug Screening for Parkinson’s disease using patient-specific iPSCs.
  • Elucidation of the pathology of Adenosine Deaminase 2 (ADA2) deficiency and development oftherapeutic drugs
  • Elucidation of molecular bases of intractable neurological diseases employing the integrative analysis ofmulti-omics research paradigm
  • Elucidation of pathophysiology of rare intractable neurodevelopmental disorders utilizing mutation knock-in mouse models developed by CRISPR/Cas9 genome editing system, and exploring novel therapeutic agent
  • Elucidation of the pathogenesis and identification of susceptibility genes for central disorders ofhypersomnolence by an integrated genetic analysis
  • Establishment of differential diagnosis method for lymphatic diseases and derivation of optimal treatment strategy utilizing refractory lymphatic vessel disease registry
  • Establishment of disease models, analysis of pathomechanism and drug discovery for achondroplasia
  • Establishment of Integrated Genome Analysis Center for Hereditary Muscle Disease
  • Establishment of the clinical research bases for hypomyelinating leukodystrophies
  • Establishment of the Next-generation Muti-omics Clinical Diagnostic Centre for rare intractable diseases with genome instability
  • Evidence creation study aiming at a biliary atresia clinical practice guidelines revision
  • Evidence-generating clinical research for myotonic dystrophy
  • Exploration of basic pathogenesis of imprinting disorders
  • Formation of integrated omics analysis base of refractory diseases in children and perinatal period
  • Gene therapy against SCA1 based on the molecular pathomechanism
  • Generation of a new experimental model for the refractory inflammatory bowel diseases based on the method for direct induction of intestinal stem cells
  • Genome editing based allele labeling of ELANE to analyze molecularGenome editing based allele labeling of ELANE to analyze molecular pathogenesis ofsevere congenital neutropenia
  • Identification of diagnostic biomarkers for refractory/relapsing acquired pure red cell aplasia (PRCA) by next generation sequencing
  • Innovative therapy development for neuro-muscular degeneration in spinal and bulbar muscular atrophy
  • Intensive genetic analysis and elucidation of the pathology by genome editing aiming at gene-specific treatment for retinitis pigmentosa
  • Investigation of Adult Still’s disease in precision medicine to create evidences that facilitate the revision of diagnostic criteria through nation-wide clinical research network
  • Investigation of inherited primary arrhythmia syndromes caused by RYR2 gene mutations including catecholaminergic polymorphic entricular tachycardia
  • Investigation of molecular pathogenesis and development of therapeutic strategy of Fukuyama congenital muscular dystrophy based on pathophysiological function of a novel ribitol-phosphate moiety
  • Investigation of the mechanisms underlying congenital scoliosis with rib Investigation of the mechanisms underlying congenital scoliosis with rib anomalies onset.
  • Investigator-oriented clinical trial of TCZ toward familial Mediterranean fever (FMF) developed from the exploratory study
  • Investigators initiated clinical trial of rituximab for steroid treatment-resistant pemphigus
  • Investigators initiated phase II,randomized double-blinded placebo controlled parallel-group comparative study of IDEC-C2B8(Rituximab)in patients with systemic sclerosis disease
  • lStudy for the improvement of diagnosis and treatment by an integral approach ofatypical hemolytic uremic syndrome (aHUS)
  • Management ofthe clinical diagnostic centre for rare intractable diseases with genome instability and development ofpotential therapeutic medicine
  • Mechanism of immune system in mucosal surface disrupted by fatty acid
  • Multicenter registry study on efficacy and safety of balloon pulmonary angioplasty against chronic thromboembolic pulmonary hypertension
  • Multiomics analyses integrating genome/transcriptome/metabolome to elucidate the pathology ofrare intractable diseases
  • New treatment strategies for hyper-IgE syndrome based on the pathogenesis and pathophysiology ofthe syndrome
  • Next-generation treatment strategy of Parkinson’s disease by Precision Medicine
  • Novel therapeutic effect of l-cis-Diltiazem on ventricular fibrillation in congenital long-QT syndrome
  • Omics analysis to identify disease-causing mutation and molecular mechanism of inherited retinal diseases, inherited glaucoma and inherited optic neuropathy
  • Pathogenesis and novel therapeutic approarches in RASoapthies
  • Pathological analysis and development ofan innovative therapeutic agent ofniemann-pick disease type C
  • Pre-clinical study of Fukuyama muscular dystrophy antisense nucleic acid drug aiming for regulatory approval and natural history and biomarker search · and preparation oftrial protocol
  • Preclinical study of self-degradable against pathogenic TDP-43 in ALS
  • Promotion of Japanese IgA nephropathy prospective cohort study to improve the reliability and validity of Japanese classifications of histological grade, clinical severity and dialysis induction risk; the development oftreatment to protect high risk patients from progression to end-stage kidney disease
  • Proposal on a new disease concept “Vulnerable Epigenome Syndrome” based on analyses ofgene functions whose novel mutations discovered in fetal growth restriction, and development ofthe world’s first epigenome-repair therapy by epigenome editing
  • Research for global sharing of R&D pipelines on rare and intractable diseases by creating web-based communication media
  • Research on development a novel high-accuracy gene editing method that can be appl ied as a therapy for rare genetic immunological disorders
  • Research on the identification of small molecule compounds for the treatment ofgelatinous drop-like corneal dystrophy
  • Risk stratification of sudden cardiac death in Brugada syndrome and construction of predictive model for clinical application
  • Safety and efficacy of phase I/IIa clinical trial for trans-scleral unoprostone delivery in patients with retinitis pigmentosa (step 2)
  • Search for new therapeutic seeds of CARASIL targeting TGF-β signal
  • Selenoprotein P Promotes Vascular Smooth Muscle Cell Proliferation and Pulmonary Hypertension-A Possible Novel Therapeutic Target-
  • Studies on stratification using genetic information in patients withStudies on stratification using genetic information in patients with idiopathic thrombosis
  • Study of intestinal transplant technique and guideline of immunosuppression for intestinal failure including short gut syndrome
  • Study to provide several lines of evidence which directly connecting to managements for target diseases ofnewborn screening
  • The clinical trial for demonstrating the efficacy and safety ofrituximab on the recurrent cases ofIgG4-related disease
  • The combination of clinical and basic research about peripartum▼cardiomyopathy to develop the novel biomarkers and treatment
  • The creation of evidence which lead to medical practice with a view to revision ofmanuals/guideline ofmitochondrial disease
  • The omics center for precise diagnosis and dissecting pathomechanisms in rare genetic diseases
  • Therapeutic strategies for patients with immunoproteasomes dysfunctions
  • Transgenic monkey model of the polyglutamine diseases recapitulating progressive neurological symptoms: establishing pathological mechanism and effective treatment for spinocerenellar ataxia type 3
  • Treatment selection for the acute phase of Kawasaki disease using biomarkers

2016

  • Basic Research on MIRAGE Syndrome Toward Development of the Therapeutic Strategies
  • Designing and implementation of registry system
  • Development of a genetic diagnosis and a new therapy for sinus bradycardia and atrial bradyarrhythmia
  • Development of a novel therapeutic approach for muscle disorders using microRNAs capable of a strong muscle development induction
  • Development of AAV vector-based gene therapy for neurological diseases of children and inherited metabolic diseases such as AADC deficiency
  • Development of gene therapy targeting cardiac fibroblasts for heart regeneration
  • Development of new therapy targeting mitochondria for dilated cardiomyopathy by liposome-based nanocarrie
  • Development of preoperative training system integrated virtual reality and physical simulator in pediatric endoscopic surgery to avoid on-the-job training
  • Development of the therapeutic strategies using nucleic acids containing Amido-bridged nucleic acid (AmNA) toward a cure for the Parkinson’s disease
  • Drug discovery focusing on a new pathogenic protein of pulmonary hypertension
  • Elucidation of the pathogenesis of multiple system atrophy by neuronal exosomes
  • Evaluation of training system using re-experienced skill training system in endoscopic surgical operation
  • Far seeing drug discovery, the research for identification of novel causative gene of mitochondrial disorders and investigation of molecular pathogenesis
  • Forward genetics-based discovery of novel dystonia treatment
  • High-throughput sequencing-based pathophysiological investigation for improving diagnostic accuracy and development of novel therapies for Hunner type interstitial cystitis
  • Identification and clarification of genetic etiologies in undiagnosed patients with primary immunodeficiency syndrome
  • Installation of GCTP complied CMO Facility of AAV vectors for Gene Therapy
  • Migration disorder in Fukuyama congenital muscular dystrophy and related disorders
  • Research on food-related risk factors of inflammatory bowel disease
  • Research on the interactions between microbiome and immune, nervous system for prevention and treatment of multiple sclerosis
  • Research on the mechanism and regulation of multi-system failure in patients with Marfan syndrome
  • Standardization of the sampling and analytical methods (metagenome and metabolome analyses using stool and intestinal mucosa etc) and establishment of comprehensive database of ormation about metagenome/metabolome data and clinical data
  • Study on structure of the implementation system for clinical trials of ex vivo gene and cell therapy for primary immunodeficiency and development of human resources

2015

  • A cohort study for efficacy and safety of rapamycin in the patients with LAM for five years
  • A large multicenter study to establish clinical standards and improve surgical results for the treatment of ossification of the spinal ligaments.
  • A multi-center observational study of dilated phase of hypertrophic cardiomyopathy
  • A multi-center, randomized, double-blind, placebo-controlled trial to determine the efficacy of rituximab against a relapse of neuromyelitis optica spectrum disorders with anti-aquaporin 4 antibody
  • A nation-wide follow-up study toward publication of a practice guideline for adult chronic neutropenia
  • A study of pathogenesis and development for biological diagnosis and treatment of Joubert syndrome and its related diseases
  • Advancing Care of Primary Aldosteronism in Japan Study
  • Analysis for cardiovascular microstructure of congenital heart disease using X-ray phase-contrast tomography
  • Analysis of the pathophysiology and development of new treatment in Parkinson’s disease using iPS cells
  • Calpainlinhibition therapy for Duchenne muscular dystrophy
  • Clinical guideline and clinical research for Kii ALS/PDC
  • Clinical realization of an evolutional drug for muscular atrophy in patients with Duchenne muscular dystrophy
  • Clinical realization of taurine supplementation for prevention of stroke-like episodes in MELAS
  • Clinical study for evaluating the efficacy of intervention in Patients with intractable liver diseases
  • Comprehensive Study for Establishment of Evidence for Best Clinical Practice in Moyamoya disease
  • Construction and application of database for CADASIL, a  hereditary small vessel disease
  • Creation of a network for skeletal dysplasia research and care to develop clinical guidelines
  • Development and practice of the in situ induced regeneration therapy using new oxime derivatives sustained-release formulation(YS-1402), aiming for life prognosis improvement and artificial heart device removal in cardiomyopathy patients with severe heart failure dilated
  • Development of a drug including medium chain fatty acids to treat triglyceride deposit cardiomyovasculopathy
  • Development of a genetic diagnostic system for inherited hematological diseases using next-generation sequencing
  • Development of a new disease modifying drug for multiple sclerosis
  • Development of A Novel Treatment for Amyotrophic Lateral Sclerosis Using Hepatocyte Growth Factor (HGF)
  • Development of a quantitative measuring system to detect anti-neurofascin 155 antibodies and accumulation of evidence about anti-neurofascin 155 antibody-associated inflammatory demyelinating diseases
  • Development of anti-parkinsonian medicine enhancing mitochondrial clearance via autophagy induction.
  • Development of antisense oligonucleotide for spinocerebellar ataxia type 31.
  • Development of biomarker and elucidation of natural history for progressive supranuclear palsy and related disorders by establishing multi-center collaborative cohort research
  • Development of efficient stem cell-based therapy for muscular disorder
  • Development of evidence based treatments for inherited hearing loss.
  • Development of exon skipping therapy targeting the hot spot region for Duchenne muscular dystrophy
  • Development of Gene Therapy for Neurodegenerative diseases based on Molecular Mechanisms
  • Development of Medical Chaperone for Prion Disease
  • Development of medical information collecting system for the education and total life care of the patients with congenital heart diseases (CHD)
  • Development of monoclonal antibody for the treatment of multiple sclerosis
  • Development of novel therapeutic strategies for the treatment of chronic active Epstein-Barr virus infection and related diseases
  • Development of novel therapeutic strategy for heart failure via activating invariant natural killer T cells
  • Development of sodium pyruvate therapy for lactic acidosis associated with mitochondrial myopathy – unmet needs for orphan drugs from reagent –
  • Development of wound healing drug using novel functional peptide for skin ulcer with Werner Syndrome
  • Drug Development for Pompe Disease by Patient-derived iPS Cells
  • Elucidation of pathophysiology and development of therapy on Ehlers-Danlos syndrome caused by D4ST1 deficiency
  • Elucidation of the pathology and Development of novel therapeutic strategy for familial amyotrophic lateral sclerosis (ALS) using iPS cells
  • Erification study for development of disease control by low-molecule erification study for development of disease control by low-molecule weight inhibitors of RANKL
  • Establishment of a drug development platform for autoinflammatory diseases
  • Establishment of diagnosis method for progressive familial intrahepatic cholestasis type 1
  • Establishment of efficient analysis system for pathophysiological analysis and drug discovery using disease specific iPSCs of Spinal-bulbar muscular atrophy
  • Establishment of offending food-identification methods for patients with eosinophilic gastrointestinal disorders (EGID)
  • Evaluation of anti-CD20 antibody therapy for autoimmune bullous diseases for guideline optimization
  • Evidence creation through nationwide surveillance of the progeria syndrome Werner syndrome and establishment of case registration system
  • Exploring pathogenesis and novel therapeutic targets using Pendred syndrome patient derived hiPS cells and companion diagnosis using iPSC technology
  • Functional analysis of bioengineered cardiac tissues from hypertrophic cardiomyopathy patients for the development of novel therapeutic strategy
  • Identification of novel differentiation factors using iPS cells derived from GATA2 deficiency
  • Identification of therapeutic targets and development of intervention strategy for systemic lupus erythematosus based
    on the comprehensive analysis of genome and transcriptome.
  • Implementation of investigator initiated trial using adrenomedullin preparation for refractory inflammatory bowel diseases
  • Initiative on Rare and Undiagnosed Diseases in Adults
  • Initiative on Rare and Undiagnosed Diseases in Pediatrics
  • Intravenous Infusion of Pitavastatin-Incorporated PLGA Nanoparticles for Treatment of Patients with Severe Pulmonary Arterial Hypertension
  • Investigation of glia function in intractable epilepsy and creation of clinical guideline
  • Investigation towards the start of clinical trials for suppression of progression of retinitis pigmentosa by unoprostone sustained release device
  • Investigator-initiated clinical trial to obtain the proof of concept for “local high dose therapy” using topical sirolimus formulation to systemic neurofibromas derived from neurofibromatosis type1
  • Molecular diagnosis of congenital imprinting disorders and associated with assisted reproductive technology (ART)
  • Multicenter clinical trials on efficacy and safety of cybernic treatment using cyborg-type robot HAL-HN01 for the patients with gait dysfunction due to rare/intractable brain & spinal cord diseases
  • Mutation analysis and development of readthrough therapy for nonsense mutations in hereditary skin disorders
  • Myoblast Sheet Implantation as Bridge to Transplantation in pediatric DCM Patients with Severe Heart Failure
  • Novel diagnostic method and treatment development research for Chronic Intestinal Pseudo-obstruction (CIPO) toward evidence creation
  • Pathological and therapeutic study of GJB2 related hearing loss targeting cochlear gap junction by using patients derived iPS cells.
  • Phase 2/3-clinical trial of N-acetylneuraminic acid for GNE myopathy
  • Physician-initiated clinical trial to verify the usefulness and safety of OCH-NCNP for treatment of neurophysiologic disorders for intractable Crohn’s disease
  • Practical research for multicenter cooperative and investigator initiated clinical trial using valproic acid in childhood onset spinal muscular atrophy
  • Practical Research Project for Rare / Intractable Diseases
  • Preclinical study and elucidation of the mechanism of statin found by screening using iPS cells as therapeutic drug for FGFR3 disorders.
  • Providing clinical evidence for diagnosis and evaluation of treatment using quantification of Epstein-Barr virus (EBV) DNA in chronic active EBV infection and related diseases
  • Pulmonary Alveolar Proteinosis GM-CSF Inhalation Efficacy Trial in Japan
  • ractical Research of Neuroprotective Gene Therapy for Patients with ractical Research of Neuroprotective Gene Therapy for Patients with Retinitis Pigmentosa
  • Re-evaluation of antiplatelet medicine treatments in Kawasaki disease
  • Research for diagnostic criteria and treatment strategy for Stevens-Johnson syndrome at chronic phase
  • Research for improving the quality of clinical practice of intractable vestibular diseases
  • Research for the natural history and its modifying factors in multiple system atrophy
  • Research on clinical foundation for fragile X syndrome and fragile X associated tremor/ataxia syndrome development toward promoting treatment.
  • Research on Implementing Anti-CCR4 Antibody as an Innovative Treatment for HAM in Japan
  • Research on the development of epoch-making novel therapy for secondary-progressive multiple sclerosis
  • Research on the development of innovative medicines for multiple sclerosis
  • Research on the long-term surveillance in patients with hypothalamo-hypophysial disorders.
  • Research to develop serum diagnostic test for eosinophilic gastrointestinal disorders to prevent developmental retardation
  • Research to improve quality of management of patients with single ventricular heart defect
  • Strategic exploration of drug seeds for ANCA-associated Strategic exploration of drug seeds for ANCA-associated vasculitis and construction of clinical evidence    
  • Strategic research to construct evidence for severe pulmonary hypertension
  • Study for identification of novel causative genes for Diamond-Blackfan anemia and clarification of the pathology
  • Study of disease progression and evaluation of drug candidates for fibrodysplasia ossificans progressiva by using patient-specific iPSC-derived heterotypic ossification model mice
  • Targeting self-derived factors for the treatment of systemic lupus erythematosus and multiple sclerosis
  • The clinical approach for examination of DNA methylation on the imprinting disorders and associated with ART
  • The clinical development of the treatment of osteonecrosis of the femoral head with a local application of recombinant human bFGF gelatin hydrogel for bone regeneration.
  • The molecular analysis of Paroxysmal Kinesigenic Dyskinesia(PKD) and the Development of novel therapeutic agents based on the clinical features of PKD
  • The study on establishing evidence for guidelines for the management of abnormalities in hormonal signaling mechanisms
  • The study to improve prognosis of incurable disease and deliver novel  medical equipment from Japan to the World by physician-led clinical trial to investigate safety and efficacy of bioabsorbable stent for pulmonary arterial lesions
  • TheThe Strategic Study Group to Establish the Evidence for Intractable Vasculitis Guideline
  • αTCP scaffold having high affinity with endogenous/exogenous growth factor for Generalized Aggressive Periodontitis treatment

2014

  • A clinical trial of TK-98 for polymyositis (PM) and dermatomyositis (DM)
  • A new therapeutic approach for ALS
  • Analysis on pathophysiology and a novel therapy development for idiopathic bone marrow failures by using iPS cell technology
  • Basic research for the treatment of epigenetic rare disorders and research for the technical development to analyze unexplained rare disease
  • Case collection and pathogenetic analysis of rare genetics disorders associated with genome instability
  • Clarification of the pathology and development therapies for the
    Ossification of the posterior longitudinal ligament
  • Comprehensive genome analysis focusing on neurological disorders
  • Comprehensive Genome Analysis for Hereditary Cardiovascular diseases
  • Developing new therapies for multiple system atrophy
  • Developing the treatment for patients with X-linked a-thalassemia/ mental retardation (ATR-X) syndrome using 5-aminolevulinic acid.
  • Development of a new treatment for intractable neurodegenerative diseases by supplying microRNAs that are capable of promoting synaptic formation
  • Development of a novel drug with new action mechanism for multiple sclerosis
  • Development of a rapid diagnostic system by P.O.C. tests for acquired coagulopathies
  • Development of drugs blocking progression of neurofibromatosis 1 by drug repositioning approach.
  • Development of evidence based management strategy for diffuse pulmonary disorders
  • Development of innovative drugs for Sjögren’s syndrome which target
    a BAFF receptor
  • Development of molecular diagnostic systems for disorders of sex development and pubertal disorders
  • Development of novel drug for severe cutaneous adverse drug reactions targeting specific cell death mechanism
  • Development of novel therapies based on the pathogenesis of the inherited hypomyelinating disorders
  • Development of the effective treatment strategies for autoimmune neuropathies based on the prediction of the response to therapies
  • Development of therapy for conformational neurodegenerative diseases targeting aggregation and transmission of prionoid proteins
  • Diagnostic and therapeutic research for chronic enteropathy
  • Drug screening and in-vivo evaluation on Marfan syndrome and related disorders
  • Elucidation of disease pathology and research on therapeutic development using a large scale prospective cohort with genomic DNA and immortalized cells of sporadic ALS patients
  • Elucidation of mechanisms of pathogenesis imprinting disorders: Study using patients-derived iPS cells
  • Elucidation of pathology and development of therapeutic method using disease-specific iPS cells derived from patients with developmental disorders caused by abnormal genomic structure
  • Elucidation of pathomechanisms and development of therapeutic options for defective signal transduction at the neuromuscular junction and the skeletal muscle
  • Elucidation of the pathophysiology and development of innovative drug on scleroderma
  • Elucidation of the pathophysiology of generalized pustular psoriasis as IL-36RN deficiency in order to develop innovative pharmaceuticals, and establishment of guideline of the disease
  • Elucidation of the significance of LRG as a novel drug target in inflammatory bowel diseases
  • Establishing a nationwide genetic and epigenetic analysis center for pediatric and perinatal diseases
  • Establishment of diagnostic and therapeutic approach, elucidation of etiology for ataxia telangiectasia and DNA damage response associated diseases
  • Establishment of integrated next-generation diagnostic center for hereditary myopathy
  • Establishment of Novel Treatments for Amyotrophic Lateral Sclerosis
  • Establishment of tailor-made medicine by creating animal model of Neuromyelitis Optica(NMO)
  • Exploratory investigation for seeds ofevolutional drug developments by drug repositioning with iPS cells derived from Dravet syndrome patients.
  • Grasping the natural history of Fukuyama type muscular dystrophy and searching for biomarkers reflecting the medical condition
  • Identification of Asian-specific genetic and environmental factors for multiple sclerosis by the constructed biobank of Japanese and elucidation of the pathogenesis
  • Identification of novel, therapy-responsive protein biomarkers for Duchenne muscular dystrophy
  • Identification of pathogenesis and pathophysiology of hyper-IgE syndrome to develop a new treatment strategy.
  • Improvement of medical practice of HTLV-1 associated rare and intractable diseases
  • Innovative drug development for cardiomyopathy by integrating genome analysis technology and disease-specific iPS cells
  • Inovation research in autoimmune diseases
  • Intensive omics analysis for clarifying disease pathogenesis and construction of genetic diagnosis network of rare/intractable diseases.
  • mTOR inhibitors for the treatment of autism spectrum disorder
    associated with tuberous sclerosis complex.
  • Multicenter Investigator-initiated clinical trial using cultivated autologous oral mucosal epithelial cell sheet transplantation for patients with limbal stem-cell deficiency
  • Nationwide interdisciplinary research for the development of established treatment and innovative prophylaxis for osteonecrosis of the femoral head
  • NGS center for rare genetic diseases
  • Novel strategy of the treatment for severe eosinophilic chronic rhinosinusitis.
  • Pathogenesis and novel therapeutic approarches in disorders with dysregulation of the RAS pathway
  • Pathologic analysis and development of clinical guidelines and therapeutics of inherited GPI deficiency
  • Pathophysiological analysis and drug discovery for spinal-bulbar muscular atrophy using disease specific iPSCs
  • Phenotype-genotype analysis and investigation of disease-causing mechanism for hereditary retinal diseases
  • Promotion of development of preventive and therapeutic drugs
    for prion diseases
  • Pulmonary Alveolar Proteinosis and Hereditary Interstitial Lung Diseases: Intractable Factors and Overcome
  • Raised diagnostic criteria and practical guideline for blood proliferative disorders in children, adolescence and young adult
  • Research Committee of Molecular Pathogenesis and Therapies for Prion Disease and Slow Virus Infection
  • Research for establishing clinical guidelines, and for the clinical application of pathological and cell biological findings of congenital lymphatic diseases
  • Research on determining the causes of neuromuscular disease and development of an innovative treatment
  • Research on establishing clinical platforms to facilitate clinical trials for myotonic dystrophy
  • Research to advance the development of innovative therapies for HAM
  • Research to raise the quality of clinical practice for mitochondrial disease, involving the establishment of the registry systems, clinical guideline and diagnosis systems
  • Research to revise clinical guidelines and to improve quality of clinical managements for inherited metabolic disorders targeted by newborn screening using tandem MS
  • Search for the pathogensis and therapy for xeroderma pigmentosum using XP-iPS cells
  • Studies on molecular pathology and therapeutic strategy for spinocerebellar ataxia
  • Study for elucidation of etiopathogenesis and establishment of new treatment strategy for IgG4-related disease
  • Study for practical application of novel medicine for epidermolysis bullosa
  • Study on elucidation of the pathomechanism and development of therapeutic method for sporadic neurological intractable diseases using next generation sequencer
  • The development of innovative medicine for IBD by using original in vitro IBD model.
  • The development of therapeutics for muscular dystrophy by G-CSF
  • The research for unraveling the genetic factors and molecular pathology of rare diseases showing intractable epilepsy
  • Translational research toward the clarification of autoinflammatory mechanisms by FMF inflammasomes based on the comprehensive genomic analyses
  • Treatment for Adductor Spasmodic Dysphonia by Type 2 Thyroplasty Using Titanium Bridges