Disease The intractable diseases designated by MHLW, Japan

Diseases : 338 - Clinical trials : 34,520 / Drugs : 19,957 - ( DrugBank : 2,195 ) / Drug target genes : 613 - Drug target pathways : 297

ID	Disease name [Group]	Clinical trial Phase 1 / 2 / 3 / 4	Drug [ DrugBank ]	Target gene Target pathway	Domestic patients Med expenses recipients (FY2022)
40	Takayasu arteritis [Imm] 💬 "Aortitis syndrome", "Pulseless disease"	24 trials    | 0 / 5 / 8 / 3 💬	40 drugs   [ 18 drugs ]	23 genes   110 pathways	4,642 patients Age distribution💬
41	Giant cell arteritis [Imm] 💬 "Temporal arteritis"	131 trials    | 60 / 42 / 79 / 15 💬	139 drugs   [ 36 drugs ]	33 genes   125 pathways	2,453 patients Age distribution💬
42	Polyarteritis nodosa [Imm] 💬 "PAN"	15 trials    | 0 / 6 / 6 / 2 💬	26 drugs   [ 16 drugs ]	26 genes   105 pathways	2,143 patients Age distribution💬
43	Microscopic polyangiitis [Imm] 💬 "MPA"	88 trials    | 61 / 44 / 42 / 21 💬	81 drugs   [ 21 drugs ]	15 genes   90 pathways	11,078 patients Age distribution💬
44	Wegener granulomatosis [Imm] 💬 "Multiple vasculitis granulomatous disease", "Granulomatosis with polyangiitis"	98 trials    | 67 / 40 / 54 / 21 💬	108 drugs   [ 28 drugs ]	22 genes   81 pathways	3,437 patients Age distribution💬
45	Eosinophilic granulomatosis with Polyangiitis [Imm] 💬 "EGPA", "Eosinophilic multiple vasculitis granulomatous disease", "Allergic granulomatous angiitis", "AGA", "Churg-Strauss syndrome", "CSS"	31 trials    | 8 / 7 / 16 / 5 💬	44 drugs   [ 18 drugs ]	18 genes   101 pathways	6,723 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"	4,356 trials    | 1358 / 1018 / 1235 / 670 💬	2,567 drugs   [ 415 drugs ]	192 genes   228 pathways	4,966 patients Age distribution💬
48	Primary antiphospholipid syndrome [Imm] 💬 "Primary antiphospholipid antibody syndrome", "Primary APS", "PAPS"	5 trials    | 1 / 2 / 1 / 0 💬	6 drugs   [ 4 drugs ]	1 gene   7 pathways	1,019 patients Age distribution💬
49	Systemic lupus erythematosus [Imm] 💬 "SLE"	993 trials    | 415 / 404 / 286 / 118 💬	702 drugs   [ 184 drugs ]	116 genes   200 pathways	65,145 patients Age distribution💬
50	Dermatomyositis [Imm] 💬 "Polymyositis"	194 trials    | 54 / 83 / 61 / 17 💬	244 drugs   [ 89 drugs ]	50 genes   151 pathways	26,046 patients Age distribution💬
51	Scleroderma [Imm] 💬 "Systemic sclerosis", "SSc", "Diffuse cutaneous SSc", "dcSSc", "Limited cutaneous SSc", "lcSSc"	525 trials    | 274 / 260 / 151 / 63 💬	565 drugs   [ 148 drugs ]	114 genes   217 pathways	27,013 patients Age distribution💬
52	Mixed connective tissue disease [Imm] 💬	8 trials    | 0 / 5 / 1 / 0 💬	7 drugs   [ 3 drugs ]	1 gene   1 pathway	10,099 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"	305 trials    | 82 / 190 / 40 / 34 💬	325 drugs   [ 104 drugs ]	58 genes   188 pathways	19,290 patients Age distribution💬
54	Adult still disease [Imm] 💬 "Adult-onset Stills disease"	2 trials    | 0 / 0 / 0 / 0 💬	1 drug   [ 1 drug ]	1 gene   12 pathways	4,458 patients Age distribution💬
55	Relapsing polychondritis [Imm] 💬	8 trials    | 1 / 4 / 0 / 0 💬	10 drugs   [ 9 drugs ]	12 genes   101 pathways	993 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"	81 trials    | 10 / 20 / 26 / 6 💬	107 drugs   [ 30 drugs ]	36 genes   116 pathways	15,157 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 trials    | 29 / 14 / 13 / 5 💬	24 drugs   [ 4 drugs ]	4 genes   48 pathways	88 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"	447 trials    | 181 / 82 / 206 / 69 💬	297 drugs   [ 57 drugs ]	52 genes   146 pathways	1,060 patients Age distribution💬
108	TNF receptor-associated periodic syndrome [Imm] 💬	4 trials    | 5 / 1 / 2 / 1 💬	7 drugs   [ 1 drug ]	1 gene   44 pathways	35 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"	-	-	-	21 patients Age distribution💬
266	Familial mediterranean fever [Imm] 💬	28 trials    | 1 / 9 / 10 / 1 💬	22 drugs   [ 5 drugs ]	14 genes   59 pathways	657 patients Age distribution💬
267	Hyper-IgD syndrome [Imm] 💬 "HIDS", "Mevalonate kinase deffiency", "Hyperimmunoglobulinemia D and periodic fever syndrome"	11 trials    | 0 / 2 / 9 / 0 💬	6 drugs   [ 1 drug ]	1 gene   44 pathways	3 patients Age distribution💬
268	Nakajo-Nishimura syndrome [Imm] 💬 "Autoinflammation, lipodystrophy, and dermatosis syndrome", "CANDLE syndrome", "JMP syndrome", "Nakajo syndrome"	-	-	-	8 patients Age distribution💬
269	Pyogenic arthritis [Imm] 💬 "Pyoderma gangrenosum", "Acne syndrome", "PAPA syndrome"	23 trials    | 7 / 14 / 7 / 2 💬	30 drugs   [ 12 drugs ]	15 genes   106 pathways	14 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"	40 trials    | 4 / 8 / 15 / 5 💬	47 drugs   [ 21 drugs ]	18 genes   141 pathways	3,766 patients Age distribution💬
306	Eosinophilic sinusitis [Imm] 💬 [Hear] 💬	-	-	-	22,340 patients Age distribution💬
325	Hereditary autoinflammatory syndrome [Imm] 💬 "NLRC4 abnormality", "Adenosine deaminase 2 deficiency", "ADA2 deficiency", "DADA2", "Aicardi-Goutieres syndrome", "AGS", "A20 haploinsufficiency", "HA20"	5 trials    | 1 / 4 / 0 / 0 💬	11 drugs   [ 6 drugs ]	2 genes   35 pathways	14 patients Age distribution💬