Disease The intractable diseases designated by MHLW, Japan
Diseases : 338 - Clinical trials : 33,695 / Drugs : 21,110 - ( DrugBank : 2,155 ) / Drug target genes : 623 - Drug target pathways : 291
Disease group: Immune diseases| ID | Disease name [Group] | Clinical trial Phase 1 / 2 / 3 / 4 | Drug [ DrugBank ] | Target gene Target pathway | Domestic patients (1) MHLW, (2) Med expenses recipients (FY2021) |
|---|---|---|---|---|---|
| 40 | Takayasu arteritis [Imm] 💬 "Aortitis syndrome", "Pulseless disease" | 25 25 trials 1 / 4 / 8 / 3 💬 | 50 50 drugs [ 21 21 drugs ] | 25 25 genes 114 pathways | 4587 (1) About 7,000 patients (2) 4,587 patients Age distribution  💬 |
| 41 | Giant cell arteritis [Imm] 💬 "Temporal arteritis" | 128 128 trials 65 / 42 / 77 / 16 💬 | 139 139 drugs [ 36 36 drugs ] | 33 33 genes 124 pathways | 2066 (1) About 700 patients (By the research group) (2) 2,066 patients Age distribution  💬 |
| 42 | Polyarteritis nodosa [Imm] 💬 "PAN" | 14 14 trials 0 / 5 / 6 / 2 💬 | 27 27 drugs [ 16 16 drugs ] | 26 26 genes 104 pathways | 2186 (1) [Disease ID 42-43 total] 9,610 patients (2) 2,186 patients Age distribution  💬 |
| 43 | Microscopic polyangiitis [Imm] 💬 "MPA" | 87 87 trials 61 / 41 / 41 / 22 💬 | 84 84 drugs [ 20 20 drugs ] | 15 15 genes 88 pathways | 10626 (1) [Disease ID 42-43 total] 9,610 patients (2) 10,626 patients Age distribution  💬 |
| 44 | Wegener granulomatosis [Imm] 💬 "Multiple vasculitis granulomatous disease", "Granulomatosis with polyangiitis" | 92 92 trials 66 / 37 / 50 / 22 💬 | 106 106 drugs [ 27 27 drugs ] | 22 22 genes 78 pathways | 3223 (1) 1,942 patients (2) 3,223 patients Age distribution  💬 |
| 45 | Eosinophilic granulomatosis with Polyangiitis [Imm] 💬 "EGPA", "Eosinophilic multiple vasculitis granulomatous disease", "Allergic granulomatous angiitis", "AGA", "Churg-Strauss syndrome", "CSS" | 28 28 trials 8 / 7 / 13 / 5 💬 | 42 42 drugs [ 18 18 drugs ] | 18 18 genes 100 pathways | 5839 (1) About 1,800 patients (By the research group) (2) 5,839 patients Age distribution  💬 |
| 46 | Malignant rheumatoid arthritis [Imm] 💬 "MRA", "Rheumatoid vasculitis", "RV", "Rheumatoid arthritis", "RA", "Systemic rheumatoid vasculitis", "SRV", "Malignant rheumatoid arthritis with peripheral arteritis" | 4,325 4,325 trials 1377 / 993 / 1220 / 660 💬 | 2,671 2,671 drugs [ 417 417 drugs ] | 187 187 genes 224 pathways | 5075 (1) 6,255 patients (2) 5,075 patients Age distribution  💬 |
| 47 | Buerger disease [Imm] 💬 "Thromboangiitis obliterans" | 9 9 trials 0 / 3 / 0 / 0 💬 | 13 13 drugs [ 7 7 drugs ] | 6 6 genes 15 pathways | 1858 (1) 7,109 patients (2) 1,858 patients Age distribution  💬 |
| 48 | Primary antiphospholipid syndrome [Imm] 💬 "Primary antiphospholipid antibody syndrome", "Primary APS", "PAPS" | 4 4 trials 0 / 1 / 1 / 0 💬 | 5 5 drugs [ 3 3 drugs ] | 0 - | 892 (1) About 10,000 patients (By the research group) (2) 892 patients Age distribution  💬 |
| 49 | Systemic lupus erythematosus [Imm] 💬 "SLE" | 946 946 trials 437 / 391 / 263 / 114 💬 | 722 722 drugs [ 186 186 drugs ] | 117 117 genes 199 pathways | 64304 (1) 60,122 patients (2) 64,304 patients Age distribution  💬 |
| 50 | Dermatomyositis [Imm] 💬 "Polymyositis" | 182 182 trials 64 / 77 / 58 / 17 💬 | 229 229 drugs [ 88 88 drugs ] | 48 48 genes 147 pathways | 25259 (1) About 19,500 patients (2) 25,259 patients Age distribution  💬 |
| 52 | Mixed connective tissue disease [Skin] 💬 [Imm] 💬 | 8 8 trials 0 / 5 / 1 / 0 💬 | 7 7 drugs [ 3 3 drugs ] | 1 1 gene 1 pathway | 10009 (1) 11,005 patients (2) 10,009 patients Age distribution  💬 |
| 53 | Sjogren syndrome [Imm] 💬 "Sjögren syndrome", "Syndrome Sjogren's", "SS", "Autoimmune exocrinopathy", "Primary Sjogren syndrome", "Primary Sjögren syndrome", "pSS", "Secondary Sjogren syndrome", "Secondary Sjögren syndrome", "sSS" | 283 283 trials 82 / 179 / 34 / 29 💬 | 320 320 drugs [ 101 101 drugs ] | 56 56 genes 181 pathways | 18118 (1) About 66,300 patients (By the research group) (2) 18,118 patients Age distribution  💬 |
| 54 | Adult still disease [Imm] 💬 "Adult-onset Stills disease" | 2 2 trials 0 / 0 / 0 / 0 💬 | 1 1 drug [ 1 1 drug ] | 1 1 gene 12 pathways | 4206 (1) About 4,800 patients (By the research group) (2) 4,206 patients Age distribution  💬 |
| 55 | Relapsing polychondritis [Imm] 💬 | 7 7 trials 1 / 3 / 0 / 0 💬 | 10 10 drugs [ 9 9 drugs ] | 12 12 genes 100 pathways | 936 (1) About 500 patients (By the research group) (2) 936 patients Age distribution  💬 |
| 56 | Behcet disease [Imm] 💬 "Behçet disease", "BD", "Complete Behcet disease", "Complete Behçet disease", "CBD", "Incomplete Behcet disease", "Incomplete Behçet disease", "Special-type Behcet disease", "Special-type Behçet disease", "Special-type BD" | 76 76 trials 10 / 20 / 24 / 6 💬 | 110 110 drugs [ 32 32 drugs ] | 36 36 genes 116 pathways | 15122 (1) 20,035 patients (2) 15,122 patients Age distribution  💬 |
| 106 | Cryopyrin-associated periodic syndrome [Imm] 💬 "Cryopyrin associated periodic fever syndrome", "Familial cold autoinflammatory syndrome", "FCAS", "Mucke-Wells syndrome", "MWS", "Chronic infantile neurologic cutaneous, and articular syndrome", "CINCA syndrome", "Neonatal onset multisystem inflammatory disease", "NOMID" | 42 42 trials 29 / 14 / 13 / 5 💬 | 24 24 drugs [ 4 4 drugs ] | 4 4 genes 48 pathways | 83 (1) About 100 patients (By the research group) (2) 83 patients Age distribution  💬 |
| 107 | Juvenile idiopathic arthritis [Imm] 💬 "JIA", "Systemic juvenile idiopathic arthritis", "Systemic-onset juvenile idiopathic arthritis", "sJIA", "Joint-type juvenile idiopathic arthritis", "Joint-type JIA" | 441 441 trials 181 / 77 / 201 / 68 💬 | 282 282 drugs [ 56 56 drugs ] | 52 52 genes 142 pathways | 918 (1) About 8,000 patients (2) 918 patients Age distribution  💬 |
| 108 | TNF receptor-associated periodic syndrome [Imm] 💬 | 4 4 trials 5 / 1 / 2 / 1 💬 | 7 7 drugs [ 1 1 drug ] | 1 1 gene 44 pathways | 33 (1) Less than 100 patients (By the research group) (2) 33 patients Age distribution  💬 |
| 110 | Blau syndrome [Imm] 💬 "Early-onset sarcoidosis", "Systemic granulomatous diseases", "Systemic inflammatory granulomatous disease", "Juvenile onset sarcoidosis", "Early-onset childhood sarcoidosis", "Childhood sarcoidosis", "Early onset sarcoidosis", "EOS" | 0 - | 0 - | 0 - | 22 (1) Less than 100 patients (By the research group) (2) 22 patients Age distribution  💬 |
| 266 | Familial mediterranean fever [Imm] 💬 | 28 28 trials 1 / 8 / 10 / 1 💬 | 24 24 drugs [ 6 6 drugs ] | 14 14 genes 59 pathways | 530 (1) About 300 patients (2) 530 patients Age distribution  💬 |
| 267 | Hyper-IgD syndrome [Imm] 💬 "HIDS", "Mevalonate kinase deffiency", "Hyperimmunoglobulinemia D and periodic fever syndrome" | 11 11 trials 0 / 2 / 9 / 0 💬 | 6 6 drugs [ 1 1 drug ] | 1 1 gene 44 pathways | 2 (1) Less than 100 patients (2) 2 patients Age distribution  💬 |
| 268 | Nakajo-Nishimura syndrome [Imm] 💬 "Autoinflammation, lipodystrophy, and dermatosis syndrome", "CANDLE syndrome", "JMP syndrome", "Nakajo syndrome" | 1 1 trial 0 / 1 / 1 / 0 💬 | 1 1 drug [ 1 1 drug ] | 2 2 genes 35 pathways | 7 (1) Less than 100 patients (2) 7 patients Age distribution  💬 |
| 269 | Pyogenic arthritis [Imm] 💬 "Pyoderma gangrenosum", "Acne syndrome", "PAPA syndrome" | 24 24 trials 7 / 14 / 7 / 2 💬 | 30 30 drugs [ 12 12 drugs ] | 15 15 genes 105 pathways | 7 (1) Less than 100 patients (2) 7 patients Age distribution  💬 |
| 288 | Autoimmune acquired coagulation factor deficiency [Imm] 💬 "Coagulation factor deficiency", "Factor XIII deficiency", "Factor VIII deficiency", "Acquired hemophilia A", "VWF deficiency", "von Willebrand Disease", "VWD", "Factor V deficiency", "Factor X deficiency" | 205 205 trials 54 / 31 / 93 / 29 💬 | 238 238 drugs [ 31 31 drugs ] | 18 18 genes 26 pathways | 414 (1) About 700 patients (2) 414 patients Age distribution  💬 |
| 300 | IgG4-related disease [Imm] 💬 "Autoimmune pancreatitis", "IgG4-related sclerosing cholangitis", "IgG4-related lacrimal gland, orbital, and salivary gland lesions", "IgG4-related kidney disease" | 36 36 trials 4 / 8 / 14 / 4 💬 | 49 49 drugs [ 22 22 drugs ] | 16 16 genes 98 pathways | 3371 (1) About 8,000 patients (2) 3,371 patients Age distribution  💬 |
| 306 | Eosinophilic sinusitis [Imm] 💬 [Ear] 💬 | 0 - | 0 - | 0 - | 17525 (1) About 20,000 patients (2) 17,525 patients Age distribution  💬 |
| 325 | Hereditary autoinflammatory syndrome [Imm] 💬 "NLRC4 abnormality", "Adenosine deaminase 2 deficiency", "ADA2 deficiency", "DADA2", "Aicardi-Goutieres syndrome", "AGS", "A20 haploinsufficiency", "HA20" | 7 7 trials 1 / 6 / 1 / 0 💬 | 16 16 drugs [ 6 6 drugs ] | 2 2 genes 35 pathways | 13 (1) Less than 100 patients (Adult patients reported in all cases) (2) 13 patients Age distribution  💬 |