Disease The intractable diseases designated by MHLW, Japan

Diseases : 348 - Clinical trials : 39,610 / Drugs : 18,765 - ( DrugBank : 2,435 ) / Drug target genes : 703 - Drug target pathways : 305

ID	Disease name [Group]	Clinical trial Phase 1 / 2 / 3 / 4	Drug [ DrugBank ]	Target gene Target pathway	Domestic patients Med expenses recipients (FY2023)
40	Takayasu arteritis [Imm] 💬 "Aortitis syndrome", "Pulseless disease", "Aortitis syndrome" 40. Takayasu arteritis × [Imm] Immune diseases	30 trials    | 0 / 6 / 8 / 5 💬 40. Takayasu arteritis × Some trials have no Phase data.	41 drugs   [ 22 drugs ]	26 genes   115 pathways	4,676 patients Age distribution💬 40. Takayasu arteritis × Age Num 0-9 - 10-19 24 20-29 546 30-39 643 40-49 704 50-59 750 60-69 716 70-74 447 75- 846
41	Giant cell arteritis [Imm] 💬 "Temporal arteritis" 41. Giant cell arteritis × [Imm] Immune diseases	154 trials    | 5 / 38 / 83 / 7 💬 41. Giant cell arteritis × Some trials have no Phase data.	139 drugs   [ 37 drugs ]	33 genes   125 pathways	2,853 patients Age distribution💬 41. Giant cell arteritis × Age Num 0-9 - 10-19 1 20-29 - 30-39 - 40-49 5 50-59 69 60-69 375 70-74 523 75- 1,880
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.	22 drugs   [ 16 drugs ]	26 genes   104 pathways	2,115 patients Age distribution💬 42. Polyarteritis nodosa × Age Num 0-9 - 10-19 2 20-29 28 30-39 90 40-49 198 50-59 341 60-69 453 70-74 337 75- 666
43	Microscopic polyangiitis [Imm] 💬 "MPA" 43. Microscopic polyangiitis × [Imm] Immune diseases	95 trials    | 3 / 33 / 42 / 7 💬 43. Microscopic polyangiitis × Some trials have no Phase data.	65 drugs   [ 23 drugs ]	14 genes   87 pathways	11,879 patients Age distribution💬 43. Microscopic polyangiitis × Age Num 0-9 - 10-19 4 20-29 49 30-39 76 40-49 226 50-59 615 60-69 1,587 70-74 2,049 75- 7,273
44	Wegener granulomatosis [Imm] 💬 "Multiple vasculitis granulomatous disease", "Granulomatosis with polyangiitis" 44. Wegener granulomatosis × [Imm] Immune diseases	122 trials    | 1 / 10 / 45 / 3 💬 44. Wegener granulomatosis × Some trials have no Phase data.	89 drugs   [ 31 drugs ]	23 genes   81 pathways	3,537 patients Age distribution💬 44. Wegener granulomatosis × Age Num 0-9 - 10-19 3 20-29 51 30-39 94 40-49 251 50-59 405 60-69 686 70-74 578 75- 1,469
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	45 trials    | 2 / 5 / 1 / 1 💬 45. Eosinophilic granulomatosis with Polyangiitis × Some trials have no Phase data.	39 drugs   [ 19 drugs ]	19 genes   100 pathways	7,643 patients Age distribution💬 45. Eosinophilic granulomatosis with Polyangiitis × Age Num 0-9 - 10-19 7 20-29 96 30-39 278 40-49 834 50-59 1,639 60-69 1,826 70-74 1,086 75- 1,877
46	Malignant rheumatoid arthritis [Imm] 💬 "MRA", "Rheumatoid vasculitis", "RV", "Rheumatoid arthritis", "RA", "Systemic rheumatoid vasculitis", "SRV" 46. Malignant rheumatoid arthritis × [Imm] Immune diseases	4,543 trials    | 358 / 917 / 1169 / 562 💬 46. Malignant rheumatoid arthritis × Some trials have no Phase data.	2,251 drugs   [ 390 drugs ]	198 genes   232 pathways	4,825 patients Age distribution💬 46. Malignant rheumatoid arthritis × Age Num 0-9 - 10-19 1 20-29 10 30-39 81 40-49 294 50-59 680 60-69 1,180 70-74 901 75- 1,678
48	Primary antiphospholipid syndrome [Imm] 💬 "Primary antiphospholipid antibody syndrome", "Primary APS", "PAPS" 48. Primary antiphospholipid syndrome × [Imm] Immune diseases	9 trials    | 1 / 5 / 1 / 0 💬 48. Primary antiphospholipid syndrome × Some trials have no Phase data.	8 drugs   [ 6 drugs ]	3 genes   59 pathways	1,174 patients Age distribution💬 48. Primary antiphospholipid syndrome × Age Num 0-9 - 10-19 2 20-29 56 30-39 154 40-49 215 50-59 267 60-69 226 70-74 110 75- 144
49	Systemic lupus erythematosus [Imm] 💬 "SLE" 49. Systemic lupus erythematosus × [Imm] Immune diseases	1,227 trials    | 200 / 425 / 303 / 78 💬 49. Systemic lupus erythematosus × Some trials have no Phase data.	752 drugs   [ 175 drugs ]	130 genes   207 pathways	66,307 patients Age distribution💬 49. Systemic lupus erythematosus × Age Num 0-9 - 10-19 201 20-29 4,932 30-39 8,761 40-49 14,164 50-59 15,685 60-69 10,792 70-74 4,981 75- 6,791
50	Dermatomyositis [Imm] 💬 "Polymyositis" 50. Dermatomyositis × [Imm] Immune diseases	231 trials    | 17 / 91 / 68 / 10 💬 50. Dermatomyositis × Some trials have no Phase data.	216 drugs   [ 55 drugs ]	59 genes   141 pathways	26,999 patients Age distribution💬 50. Dermatomyositis × Age Num 0-9 1 10-19 37 20-29 400 30-39 1,027 40-49 2,929 50-59 5,590 60-69 6,588 70-74 3,965 75- 6,462
51	Scleroderma [Imm] 💬 "Systemic sclerosis", "SSc", "Diffuse cutaneous SSc", "dcSSc", "Limited cutaneous SSc", "lcSSc" 51. Scleroderma × [Imm] Immune diseases	639 trials    | 70 / 282 / 134 / 24 💬 51. Scleroderma × Some trials have no Phase data.	551 drugs   [ 157 drugs ]	135 genes   222 pathways	27,057 patients Age distribution💬 51. Scleroderma × Age Num 0-9 - 10-19 6 20-29 193 30-39 536 40-49 1,717 50-59 4,231 60-69 6,419 70-74 4,833 75- 9,122
52	Mixed connective tissue disease [Imm] 💬 52. Mixed connective tissue disease × [Imm] Immune diseases	9 trials    | 0 / 4 / 0 / 0 💬 52. Mixed connective tissue disease × Some trials have no Phase data.	8 drugs   [ 4 drugs ]	1 gene   1 pathway	10,199 patients Age distribution💬 52. Mixed connective tissue disease × Age Num 0-9 - 10-19 15 20-29 415 30-39 928 40-49 1,865 50-59 2,542 60-69 2,029 70-74 1,028 75- 1,377
53	Sjogren syndrome [Imm] 💬 "Sjögren syndrome", "Syndrome Sjogren's", "Autoimmune exocrinopathy" 53. Sjogren syndrome × [Imm] Immune diseases	368 trials    | 30 / 181 / 56 / 23 💬 53. Sjogren syndrome × Some trials have no Phase data.	277 drugs   [ 94 drugs ]	62 genes   186 pathways	20,476 patients Age distribution💬 53. Sjogren syndrome × Age Num 0-9 - 10-19 14 20-29 378 30-39 967 40-49 2,328 50-59 4,355 60-69 4,472 70-74 2,847 75- 5,115
54	Adult still disease [Imm] 💬 "Adult-onset Still's disease" 54. Adult still disease × [Imm] Immune diseases	25 trials    | 1 / 9 / 5 / 0 💬 54. Adult still disease × Some trials have no Phase data.	32 drugs   [ 16 drugs ]	16 genes   99 pathways	4,705 patients Age distribution💬 54. Adult still disease × Age Num 0-9 - 10-19 28 20-29 313 30-39 528 40-49 745 50-59 903 60-69 731 70-74 516 75- 941
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.	14 drugs   [ 12 drugs ]	14 genes   111 pathways	1,083 patients Age distribution💬 55. Relapsing polychondritis × Age Num 0-9 - 10-19 2 20-29 18 30-39 53 40-49 136 50-59 254 60-69 241 70-74 140 75- 239
56	Behcet disease [Imm] 💬 "Behçet disease", "BD" 56. Behcet disease × [Imm] Immune diseases	87 trials    | 5 / 21 / 30 / 5 💬 56. Behcet disease × Some trials have no Phase data.	90 drugs   [ 35 drugs ]	41 genes   126 pathways	15,164 patients Age distribution💬 56. Behcet disease × Age Num 0-9 - 10-19 44 20-29 808 30-39 1,726 40-49 2,945 50-59 3,656 60-69 2,535 70-74 1,333 75- 2,117
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	56 trials    | 3 / 10 / 16 / 0 💬 106. Cryopyrin-associated periodic syndrome × Some trials have no Phase data.	27 drugs   [ 7 drugs ]	4 genes   47 pathways	95 patients Age distribution💬 106. Cryopyrin-associated periodic syndrome × Age Num 0-9 - 10-19 - 20-29 23 30-39 22 40-49 21 50-59 11 60-69 10 70-74 5 75- 3
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	477 trials    | 43 / 60 / 193 / 40 💬 107. Juvenile idiopathic arthritis × Some trials have no Phase data.	232 drugs   [ 53 drugs ]	66 genes   160 pathways	1,195 patients Age distribution💬 107. Juvenile idiopathic arthritis × Age Num 0-9 2 10-19 55 20-29 914 30-39 166 40-49 40 50-59 14 60-69 3 70-74 - 75- 1
108	TNF receptor-associated periodic syndrome [Imm] 💬 108. TNF receptor-associated periodic syndrome × [Imm] Immune diseases	5 trials    | 0 / 1 / 1 / 0 💬 108. TNF receptor-associated periodic syndrome × Some trials have no Phase data.	5 drugs   [ 1 drug ]	1 gene   43 pathways	34 patients Age distribution💬 108. TNF receptor-associated periodic syndrome × Age Num 0-9 - 10-19 - 20-29 5 30-39 11 40-49 7 50-59 5 60-69 5 70-74 1 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	24 patients Age distribution💬 110. Blau syndrome × Age Num 0-9 - 10-19 - 20-29 8 30-39 9 40-49 3 50-59 3 60-69 1 70-74 - 75- -
266	Familial mediterranean fever [Imm] 💬 266. Familial mediterranean fever × [Imm] Immune diseases	35 trials    | 1 / 10 / 10 / 3 💬 266. Familial mediterranean fever × Some trials have no Phase data.	21 drugs   [ 7 drugs ]	14 genes   58 pathways	786 patients Age distribution💬 266. Familial mediterranean fever × Age Num 0-9 - 10-19 12 20-29 173 30-39 179 40-49 164 50-59 153 60-69 59 70-74 19 75- 27
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.	5 drugs   [ 1 drug ]	1 gene   43 pathways	3 patients Age distribution💬 267. Hyper-IgD syndrome × Age Num 0-9 - 10-19 - 20-29 2 30-39 - 40-49 - 50-59 1 60-69 - 70-74 - 75- -
268	Nakajo-Nishimura syndrome [Imm] 💬 "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	9 patients Age distribution💬 268. Nakajo-Nishimura syndrome × Age Num 0-9 - 10-19 - 20-29 2 30-39 1 40-49 3 50-59 3 60-69 - 70-74 - 75- -
269	Pyogenic arthritis [Imm] 💬 "Pyoderma gangrenosum", "Acne syndrome", "PAPA syndrome" 269. Pyogenic arthritis × [Imm] Immune diseases	32 trials    | 1 / 16 / 10 / 2 💬 269. Pyogenic arthritis × Some trials have no Phase data.	32 drugs   [ 16 drugs ]	17 genes   106 pathways	14 patients Age distribution💬 269. Pyogenic arthritis × Age Num 0-9 - 10-19 2 20-29 3 30-39 3 40-49 3 50-59 2 60-69 1 70-74 - 75- -
300	IgG4-related disease [Imm] 💬 "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	57 trials    | 2 / 12 / 17 / 7 💬 300. IgG4-related disease × Some trials have no Phase data.	52 drugs   [ 29 drugs ]	20 genes   147 pathways	4,120 patients Age distribution💬 300. IgG4-related disease × Age Num 0-9 - 10-19 3 20-29 15 30-39 39 40-49 203 50-59 644 60-69 1,074 70-74 783 75- 1,359
306	Eosinophilic sinusitis [Imm] 💬 [Hear] 💬 306. Eosinophilic sinusitis × [Imm] Immune diseases [Hear] Hearing and balance disorders	1 trial    | 0 / 0 / 0 / 0 💬 306. Eosinophilic sinusitis × Some trials have no Phase data.	2 drugs   [ 3 drugs ]	2 genes   11 pathways	28,491 patients Age distribution💬 306. Eosinophilic sinusitis × Age Num 0-9 - 10-19 28 20-29 600 30-39 2,376 40-49 5,811 50-59 8,610 60-69 6,760 70-74 2,335 75- 1,971
325	Hereditary autoinflammatory syndrome [Imm] 💬 "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.	15 drugs   [ 7 drugs ]	2 genes   37 pathways	20 patients Age distribution💬 325. Hereditary autoinflammatory syndrome × Age Num 0-9 - 10-19 1 20-29 12 30-39 4 40-49 1 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.	3 drugs   [ 1 drug ]	2 genes   37 pathways	-