Disease The intractable diseases designated by MHLW, Japan

Diseases : 348 - Clinical trials : 43,690 / Drugs : 27,527 - ( DrugBank : 2,441 ) / Drug target genes : 714 - Drug target pathways : 315

ID	Disease name [Group]	Clinical trial Phase 1 / 2 / 3 / 4	Drug [ DrugBank ]	Target gene Target pathway	Domestic patients Med expenses recipients, FY2024 (corrected)
40	Takayasu arteritis [Imm] 💬 "Aortitis syndrome", "Pulseless disease", "Aortitis syndrome" 40. Takayasu arteritis × [Imm] Immune diseases	41 trials    | 0 / 8 / 9 / 11 💬 40. Takayasu arteritis × Some trials have no Phase data.	66 drugs   [ 30 drugs ]	35 genes   126 pathways	4,720 patients Age distribution💬 40. Takayasu arteritis × Age Num 0-9 - 10-19 20 20-29 546 30-39 655 40-49 708 50-59 770 60-69 739 70-74 426 75- 856
41	Giant cell arteritis [Imm] 💬 "Temporal arteritis" 41. Giant cell arteritis × [Imm] Immune diseases	160 trials    | 5 / 39 / 83 / 7 💬 41. Giant cell arteritis × Some trials have no Phase data.	183 drugs   [ 35 drugs ]	32 genes   125 pathways	3,393 patients Age distribution💬 41. Giant cell arteritis × Age Num 0-9 - 10-19 1 20-29 - 30-39 - 40-49 5 50-59 87 60-69 424 70-74 584 75- 2,292
42	Polyarteritis nodosa [Imm] 💬 "PAN" 42. Polyarteritis nodosa × [Imm] Immune diseases	15 trials    | 0 / 3 / 6 / 2 💬 42. Polyarteritis nodosa × Some trials have no Phase data.	26 drugs   [ 15 drugs ]	26 genes   105 pathways	2,097 patients Age distribution💬 42. Polyarteritis nodosa × Age Num 0-9 - 10-19 3 20-29 32 30-39 91 40-49 191 50-59 339 60-69 446 70-74 305 75- 690
43	Microscopic polyangiitis [Imm] 💬 "MPA", "Glomerulonephritis" 43. Microscopic polyangiitis × [Imm] Immune diseases	101 trials    | 3 / 33 / 43 / 9 💬 43. Microscopic polyangiitis × Some trials have no Phase data.	94 drugs   [ 22 drugs ]	14 genes   87 pathways	12,920 patients Age distribution💬 43. Microscopic polyangiitis × Age Num 0-9 - 10-19 3 20-29 63 30-39 82 40-49 232 50-59 688 60-69 1,675 70-74 2,006 75- 8,171
44	Wegener granulomatosis [Imm] 💬 "Multiple vasculitis granulomatous disease", "Granulomatosis with polyangiitis" 44. Wegener granulomatosis × [Imm] Immune diseases	132 trials    | 1 / 11 / 47 / 4 💬 44. Wegener granulomatosis × Some trials have no Phase data.	136 drugs   [ 34 drugs ]	23 genes   82 pathways	3,682 patients Age distribution💬 44. Wegener granulomatosis × Age Num 0-9 - 10-19 4 20-29 45 30-39 95 40-49 241 50-59 432 60-69 701 70-74 534 75- 1,630
45	Eosinophilic granulomatosis with Polyangiitis [Imm] 💬 "EGPA", "Eosinophilic multiple vasculitis granulomatous disease", "Allergic granulomatous angiitis", "AGA", "Churg-Strauss syndrome", "CSS" 45. Eosinophilic granulomatosis with Polyangiitis × [Imm] Immune diseases	50 trials    | 2 / 5 / 1 / 1 💬 45. Eosinophilic granulomatosis with Polyangiitis × Some trials have no Phase data.	56 drugs   [ 19 drugs ]	19 genes   100 pathways	8,670 patients Age distribution💬 45. Eosinophilic granulomatosis with Polyangiitis × Age Num 0-9 - 10-19 5 20-29 103 30-39 297 40-49 883 50-59 1,828 60-69 2,088 70-74 1,198 75- 2,268
46	Malignant rheumatoid arthritis [Imm] 💬 "MRA", "Rheumatoid vasculitis", "RV", "Rheumatoid arthritis", "RA", "Systemic rheumatoid vasculitis", "SRV" 46. Malignant rheumatoid arthritis × [Imm] Immune diseases	4,743 trials    | 401 / 956 / 1174 / 586 💬 46. Malignant rheumatoid arthritis × Some trials have no Phase data.	3,042 drugs   [ 389 drugs ]	205 genes   253 pathways	4,638 patients Age distribution💬 46. Malignant rheumatoid arthritis × Age Num 0-9 - 10-19 - 20-29 11 30-39 71 40-49 265 50-59 651 60-69 1,108 70-74 845 75- 1,687
48	Primary antiphospholipid syndrome [Imm] 💬 "Primary antiphospholipid antibody syndrome", "Primary APS", "PAPS", "Antiphospholipid syndrome" 48. Primary antiphospholipid syndrome × [Imm] Immune diseases	96 trials    | 13 / 31 / 9 / 9 💬 48. Primary antiphospholipid syndrome × Some trials have no Phase data.	112 drugs   [ 22 drugs ]	20 genes   138 pathways	1,283 patients Age distribution💬 48. Primary antiphospholipid syndrome × Age Num 0-9 - 10-19 1 20-29 52 30-39 154 40-49 224 50-59 322 60-69 236 70-74 120 75- 174
49	Systemic lupus erythematosus [Imm] 💬 "SLE" 49. Systemic lupus erythematosus × [Imm] Immune diseases	1,414 trials    | 241 / 455 / 313 / 86 💬 49. Systemic lupus erythematosus × Some trials have no Phase data.	1,077 drugs   [ 181 drugs ]	130 genes   209 pathways	66,910 patients Age distribution💬 49. Systemic lupus erythematosus × Age Num 0-9 1 10-19 195 20-29 4,950 30-39 8,574 40-49 13,726 50-59 16,417 60-69 11,058 70-74 4,757 75- 7,232
50	Dermatomyositis [Imm] 💬 "Polymyositis", "Idiopathic inflammatory myositis", "IIM" 50. Dermatomyositis × [Imm] Immune diseases	264 trials    | 14 / 102 / 76 / 11 💬 50. Dermatomyositis × Some trials have no Phase data.	298 drugs   [ 66 drugs ]	71 genes   173 pathways	27,784 patients Age distribution💬 50. Dermatomyositis × Age Num 0-9 1 10-19 29 20-29 415 30-39 1,004 40-49 2,891 50-59 5,883 60-69 6,745 70-74 3,833 75- 6,983
51	Scleroderma [Imm] 💬 "Systemic sclerosis", "SSc", "Diffuse cutaneous SSc", "dcSSc", "Limited cutaneous SSc", "lcSSc" 51. Scleroderma × [Imm] Immune diseases	740 trials    | 73 / 291 / 139 / 27 💬 51. Scleroderma × Some trials have no Phase data.	813 drugs   [ 165 drugs ]	140 genes   231 pathways	27,013 patients Age distribution💬 51. Scleroderma × Age Num 0-9 - 10-19 6 20-29 187 30-39 496 40-49 1,665 50-59 4,225 60-69 6,406 70-74 4,478 75- 9,550
52	Mixed connective tissue disease [Imm] 💬 52. Mixed connective tissue disease × [Imm] Immune diseases	13 trials    | 0 / 4 / 0 / 0 💬 52. Mixed connective tissue disease × Some trials have no Phase data.	10 drugs   [ 4 drugs ]	1 gene   1 pathway	10,229 patients Age distribution💬 52. Mixed connective tissue disease × Age Num 0-9 - 10-19 17 20-29 408 30-39 898 40-49 1,774 50-59 2,670 60-69 2,044 70-74 977 75- 1,441
53	Sjogren syndrome [Imm] 💬 "Sjögren syndrome", "Syndrome Sjogren's", "Autoimmune exocrinopathy" 53. Sjogren syndrome × [Imm] Immune diseases	448 trials    | 34 / 199 / 64 / 29 💬 53. Sjogren syndrome × Some trials have no Phase data.	436 drugs   [ 104 drugs ]	68 genes   185 pathways	21,395 patients Age distribution💬 53. Sjogren syndrome × Age Num 0-9 - 10-19 19 20-29 394 30-39 982 40-49 2,386 50-59 4,640 60-69 4,769 70-74 2,710 75- 5,495
54	Adult still disease [Imm] 💬 "Adult-onset Still's disease" 54. Adult still disease × [Imm] Immune diseases	31 trials    | 1 / 9 / 5 / 1 💬 54. Adult still disease × Some trials have no Phase data.	39 drugs   [ 15 drugs ]	12 genes   116 pathways	4,965 patients Age distribution💬 54. Adult still disease × Age Num 0-9 - 10-19 19 20-29 313 30-39 532 40-49 742 50-59 998 60-69 787 70-74 475 75- 1,099
55	Relapsing polychondritis [Imm] 💬 55. Relapsing polychondritis × [Imm] Immune diseases	10 trials    | 2 / 4 / 0 / 0 💬 55. Relapsing polychondritis × Some trials have no Phase data.	13 drugs   [ 9 drugs ]	9 genes   98 pathways	1,141 patients Age distribution💬 55. Relapsing polychondritis × Age Num 0-9 - 10-19 - 20-29 24 30-39 48 40-49 141 50-59 263 60-69 262 70-74 157 75- 246
56	Behcet disease [Imm] 💬 "Behçet disease", "BD", "Behçet syndrome", "Silk Road disease" 56. Behcet disease × [Imm] Immune diseases	110 trials    | 5 / 29 / 32 / 5 💬 56. Behcet disease × Some trials have no Phase data.	137 drugs   [ 40 drugs ]	40 genes   125 pathways	15,085 patients Age distribution💬 56. Behcet disease × Age Num 0-9 - 10-19 40 20-29 823 30-39 1,664 40-49 2,870 50-59 3,717 60-69 2,614 70-74 1,221 75- 2,136
106	Cryopyrin-associated periodic syndrome [Imm] 💬 "Cryopyrin associated periodic fever syndrome", "Familial cold autoinflammatory syndrome", "FCAS", "Muckle-Wells syndrome", "MWS", "Chronic infantile neurologic cutaneous, and articular syndrome", "CINCA syndrome", "Neonatal onset multisystem inflammatory disease", "NOMID" 106. Cryopyrin-associated periodic syndrome × [Imm] Immune diseases	57 trials    | 4 / 10 / 16 / 0 💬 106. Cryopyrin-associated periodic syndrome × Some trials have no Phase data.	38 drugs   [ 5 drugs ]	4 genes   47 pathways	107 patients Age distribution💬 106. Cryopyrin-associated periodic syndrome × Age Num 0-9 - 10-19 - 20-29 29 30-39 23 40-49 22 50-59 13 60-69 9 70-74 6 75- 5
107	Juvenile idiopathic arthritis [Imm] 💬 "JIA", "Systemic juvenile idiopathic arthritis", "Systemic-onset juvenile idiopathic arthritis", "sJIA", "Joint-type juvenile idiopathic arthritis", "Joint-type juvenile idiopathic arthritis", "Joint-type JIA" 107. Juvenile idiopathic arthritis × [Imm] Immune diseases	500 trials    | 43 / 61 / 196 / 42 💬 107. Juvenile idiopathic arthritis × Some trials have no Phase data.	338 drugs   [ 52 drugs ]	65 genes   157 pathways	1,340 patients Age distribution💬 107. Juvenile idiopathic arthritis × Age Num 0-9 3 10-19 59 20-29 1,018 30-39 187 40-49 53 50-59 15 60-69 4 70-74 - 75- 1
108	TNF receptor-associated periodic syndrome [Imm] 💬 "Tumor necrosis factor receptor-associated periodic syndrome" 108. TNF receptor-associated periodic syndrome × [Imm] Immune diseases	13 trials    | 0 / 1 / 9 / 0 💬 108. TNF receptor-associated periodic syndrome × Some trials have no Phase data.	8 drugs   [ 1 drug ]	1 gene   43 pathways	36 patients Age distribution💬 108. TNF receptor-associated periodic syndrome × Age Num 0-9 - 10-19 - 20-29 3 30-39 14 40-49 8 50-59 5 60-69 4 70-74 2 75- -
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" 110. Blau syndrome × [Imm] Immune diseases	3 trials    | 0 / 0 / 0 / 1 💬 110. Blau syndrome × Some trials have no Phase data.	3 drugs   [ 1 drug ]	4 genes   39 pathways	25 patients Age distribution💬 110. Blau syndrome × Age Num 0-9 - 10-19 - 20-29 8 30-39 9 40-49 3 50-59 4 60-69 1 70-74 - 75- -
266	Familial mediterranean fever [Imm] 💬 266. Familial mediterranean fever × [Imm] Immune diseases	39 trials    | 1 / 10 / 2 / 3 💬 266. Familial mediterranean fever × Some trials have no Phase data.	44 drugs   [ 6 drugs ]	14 genes   59 pathways	857 patients Age distribution💬 266. Familial mediterranean fever × Age Num 0-9 - 10-19 9 20-29 181 30-39 205 40-49 172 50-59 167 60-69 73 70-74 17 75- 33
267	Hyper-IgD syndrome [Imm] 💬 "HIDS", "Mevalonate kinase deffiency", "Hyperimmunoglobulinemia D and periodic fever syndrome" 267. Hyper-IgD syndrome × [Imm] Immune diseases	12 trials    | 0 / 2 / 0 / 0 💬 267. Hyper-IgD syndrome × Some trials have no Phase data.	6 drugs   [ 1 drug ]	1 gene   43 pathways	5 patients Age distribution💬 267. Hyper-IgD syndrome × Age Num 0-9 - 10-19 1 20-29 2 30-39 - 40-49 - 50-59 2 60-69 - 70-74 - 75- -
268	Nakajo-Nishimura syndrome [Imm] 💬 "Autoinflammation, lipodystrophy, and dermatosis syndrome", "Autoinflammation lipodystrophy and dermatosis syndrome", "CANDLE syndrome", "JMP syndrome", "Nakajo syndrome" 268. Nakajo-Nishimura syndrome × [Imm] Immune diseases	2 trials    | 0 / 0 / 0 / 0 💬 268. Nakajo-Nishimura syndrome × Some trials have no Phase data.	3 drugs   [ 1 drug ]	2 genes   37 pathways	10 patients Age distribution💬 268. Nakajo-Nishimura syndrome × Age Num 0-9 - 10-19 1 20-29 1 30-39 2 40-49 2 50-59 4 60-69 - 70-74 - 75- -
269	Pyogenic arthritis [Imm] 💬 "Pyoderma gangrenosum", "Acne syndrome", "PAPA syndrome" 269. Pyogenic arthritis × [Imm] Immune diseases	35 trials    | 1 / 17 / 11 / 2 💬 269. Pyogenic arthritis × Some trials have no Phase data.	44 drugs   [ 17 drugs ]	12 genes   91 pathways	13 patients Age distribution💬 269. Pyogenic arthritis × Age Num 0-9 - 10-19 1 20-29 2 30-39 4 40-49 3 50-59 2 60-69 1 70-74 - 75- -
300	IgG4-related disease [Imm] 💬 "Immunoglobulin G4-related disease", "IgG4-related disease", "Autoimmune pancreatitis", "IgG4-related sclerosing cholangitis", "IgG4-related lacrimal gland, orbital, and salivary gland lesions", "IgG4-related kidney disease" 300. IgG4-related disease × [Imm] Immune diseases	81 trials    | 3 / 19 / 21 / 8 💬 300. IgG4-related disease × Some trials have no Phase data.	90 drugs   [ 31 drugs ]	23 genes   152 pathways	4,495 patients Age distribution💬 300. IgG4-related disease × Age Num 0-9 - 10-19 2 20-29 20 30-39 37 40-49 200 50-59 691 60-69 1,159 70-74 853 75- 1,533
306	Eosinophilic sinusitis [Imm] 💬 [Hear] 💬 306. Eosinophilic sinusitis × [Imm] Immune diseases [Hear] Hearing and balance disorders	2 trials    | 0 / 0 / 0 / 1 💬 306. Eosinophilic sinusitis × Some trials have no Phase data.	4 drugs   [ 4 drugs ]	3 genes   19 pathways	34,535 patients Age distribution💬 306. Eosinophilic sinusitis × Age Num 0-9 - 10-19 31 20-29 660 30-39 2,673 40-49 6,765 50-59 10,555 60-69 8,318 70-74 2,810 75- 2,723
325	Hereditary autoinflammatory syndrome [Imm] 💬 "Inherited autoinflammatory disease", "NLRC4 abnormality", "Adenosine deaminase 2 deficiency", "ADA2 deficiency", "DADA2", "Aicardi-Goutieres syndrome", "AGS", "A20 haploinsufficiency", "HA20" 325. Hereditary autoinflammatory syndrome × [Imm] Immune diseases	12 trials    | 1 / 7 / 0 / 0 💬 325. Hereditary autoinflammatory syndrome × Some trials have no Phase data.	18 drugs   [ 7 drugs ]	2 genes   37 pathways	23 patients Age distribution💬 325. Hereditary autoinflammatory syndrome × Age Num 0-9 - 10-19 1 20-29 13 30-39 4 40-49 3 50-59 2 60-69 - 70-74 - 75- -
345	Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy [Imm] 💬 [Chr] 💬 "STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy", "STING-associated vasculopathy with onset in infancy", "SAVI" 345. Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy × [Imm] Immune diseases [Chr] Chromosomal and gene abnormalities	5 trials    | 0 / 1 / 1 / 0 💬 345. Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy × Some trials have no Phase data.	4 drugs   [ 1 drug ]	2 genes   37 pathways	-