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)
60	Aplastic anemia [Hem] 💬 60. Aplastic anemia × [Hem] Hematologic diseases	305 trials    | 52 / 170 / 34 / 33 💬 60. Aplastic anemia × Some trials have no Phase data.	328 drugs   [ 91 drugs ]	60 genes   183 pathways	8,395 patients Age distribution💬 60. Aplastic anemia × Age Num 0-9 3 10-19 42 20-29 400 30-39 462 40-49 717 50-59 1,023 60-69 1,463 70-74 1,174 75- 3,111
61	Autoimmune hemolytic anemia [Hem] 💬 "AIHA", "Cold agglutinin disease", "CAD", "Paroxysmal cold hemoglobinuria", "Evans syndrome" 61. Autoimmune hemolytic anemia × [Hem] Hematologic diseases	183 trials    | 18 / 77 / 80 / 2 💬 61. Autoimmune hemolytic anemia × Some trials have no Phase data.	119 drugs   [ 42 drugs ]	31 genes   156 pathways	1,386 patients Age distribution💬 61. Autoimmune hemolytic anemia × Age Num 0-9 - 10-19 3 20-29 40 30-39 30 40-49 88 50-59 145 60-69 243 70-74 219 75- 618
62	Paroxysmal nocturnal hemoglobinuria [Hem] 💬 "PNH" 62. Paroxysmal nocturnal hemoglobinuria × [Hem] Hematologic diseases	358 trials    | 24 / 109 / 199 / 5 💬 62. Paroxysmal nocturnal hemoglobinuria × Some trials have no Phase data.	160 drugs   [ 35 drugs ]	33 genes   116 pathways	1,121 patients Age distribution💬 62. Paroxysmal nocturnal hemoglobinuria × Age Num 0-9 - 10-19 5 20-29 53 30-39 101 40-49 158 50-59 197 60-69 161 70-74 116 75- 330
63	Idiopathic thrombocytopenic purpura [Hem] 💬 "Primary immune thrombocytopenia", "Immune thrombocytopenic purpura" 63. Idiopathic thrombocytopenic purpura × [Hem] Hematologic diseases	575 trials    | 38 / 128 / 251 / 41 💬 63. Idiopathic thrombocytopenic purpura × Some trials have no Phase data.	261 drugs   [ 64 drugs ]	61 genes   142 pathways	16,600 patients Age distribution💬 63. Idiopathic thrombocytopenic purpura × Age Num 0-9 3 10-19 66 20-29 569 30-39 803 40-49 1,309 50-59 2,052 60-69 2,735 70-74 2,171 75- 6,892
64	Thrombotic thrombocytopenic purpura [Hem] 💬 "TTP", "Upshaw-Schulman syndrome", "USS" 64. Thrombotic thrombocytopenic purpura × [Hem] Hematologic diseases	109 trials    | 5 / 35 / 54 / 3 💬 64. Thrombotic thrombocytopenic purpura × Some trials have no Phase data.	67 drugs   [ 17 drugs ]	18 genes   75 pathways	405 patients Age distribution💬 64. Thrombotic thrombocytopenic purpura × Age Num 0-9 - 10-19 3 20-29 16 30-39 35 40-49 63 50-59 73 60-69 66 70-74 54 75- 95
65	Primary immunodeficiency [Hem] 💬 "X-linked severe combined immunodeficiency", "X-SCID", "Reticular dysgenesis", "Adenosine deaminase deficiency", "Omenn syndrome", "Purine nucleoside phosphorylase deficiency", "CD8 deficiency", "ZAP-70 deficiency", "MHC class I deficiency", "MHC class II deficiency", "Other combined immunodeficiencies", "Wiskott-Aldrich syndrome", "WAS", "Ataxia telangiectasia", "Nijmegen breakage syndrome", "Bloom syndrome", "Immunodeficiency, centromere region instability, facial anomalies syndrome", "ICF syndrome", "PMS2 deficiency", "Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome", "RIDDLE syndrome", "Schimke syndrome", "Netherton syndrome", "Thymic hypoplasia", "DiGeorge syndrome", "22q11.2 deletion syndrome", "Hyper-IgE syndrome", "Hepatic venoocclusive immunodeficiency", "Immunodeficiency with central hepatic vein atresia", "Dyskeratosis congenita", "X-linked agammaglobulinaemia", "Common variable immunodeficiency", "Hyper-IgM syndrome", "Isolated IgG subclass deficiency", "Selective IgA deficiency", "Specific antibody production deficiency", "Infant transient hypogammaglobulinemia", "Other predominantly antibody deficiencies", "Chédiak-Higashi syndrome", "Chediak-Higashi syndrome", "X-linked lymphoproliferative syndrome", "SAP deficiency", "SH2D1A/SLAM-associated protein deficiency", "XIAP deficiency", "X-linked inhibitor of apoptosis deficiency", "Autoimmune lymphoproliferative syndrome", "ALPS", "Other diseases of immune dysregulation", "Familial hemophagocytic syndrome", "FHPS", "Familial hemophagocytic lymphohistiocytosis", "FHL", "Perforin deficiency", "Munc13-4 deficiency", "Syntaxin 11 deficiency", "Munc18-2 deficiency", "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy", "APECED", "Autoimmune polyglandular syndrome", "APS", "Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome", "IPEX syndrome", "CD25 deficiency", "ITCH deficiency", "Severe congenital neutropenia", "Cyclic neutropenia", "Other congenital defects of neutrophil function", "p14 deficiency", "Glycogen storage disease type Ib", "Leukocyte adhesion deficiency", "Shwachman-Diamond syndrome", "Chronic granulomatous disease", "Myeloperoxidase deficiency", "Mendelian susceptibility to mycobacterial disease", "MSMD", "Other congenital defects of phagocyte function", "Anhidrotic ectodermal dysplasia with immunodeficiency", "EDA-ID", "Interleukin-1 receptor-associated kinase-4 deficiency", "IRAK4 deficiency", "MyD88 deficiency", "Chronic mucocutaneous candidiasis", "Other defects in innate immunity", "Warts, hypogammaglobulinemia, infections, myelokathexis syndrome", "WHIM syndrome", "Congenital complement deficiency", "C1q deficiency", "C1r deficiency", "C1s deficiency", "C2 deficiency", "C3 deficiency", "C4 deficiency", "C5 deficiency", "C6 deficiency", "C7 deficiency", "C8 deficiency", "C9 deficiency", "Hereditary angioedema", "C1 inhibitor deficiency", "Inherited deficiency of complement system", "Factor D deficiency", "Factor I deficiency", "Factor H deficiency", "Properdin deficiency", "MASP1 deficiency", "MASP2 deficiency", "3MC syndrome", "Immunodeficiency associated with FCN3 mutation", "FCN3" 65. Primary immunodeficiency × [Hem] Hematologic diseases	798 trials    | 123 / 261 / 315 / 49 💬 65. Primary immunodeficiency × Some trials have no Phase data.	585 drugs   [ 118 drugs ]	100 genes   216 pathways	2,186 patients Age distribution💬 65. Primary immunodeficiency × Age Num 0-9 5 10-19 58 20-29 453 30-39 457 40-49 497 50-59 362 60-69 200 70-74 73 75- 81
282	Congenital dyserythropoietic anemia [Hem] 💬 "CDA" 282. Congenital dyserythropoietic anemia × [Hem] Hematologic diseases	2 trials    | 0 / 1 / 0 / 1 💬 282. Congenital dyserythropoietic anemia × Some trials have no Phase data.	3 drugs   [ 2 drugs ]	3 genes   7 pathways	8 patients Age distribution💬 282. Congenital dyserythropoietic anemia × Age Num 0-9 - 10-19 - 20-29 3 30-39 2 40-49 2 50-59 - 60-69 1 70-74 - 75- -
283	Acquired pure red cell aplasia [Hem] 💬 "Pure red cell aplasia" 283. Acquired pure red cell aplasia × [Hem] Hematologic diseases	21 trials    | 2 / 10 / 2 / 3 💬 283. Acquired pure red cell aplasia × Some trials have no Phase data.	35 drugs   [ 20 drugs ]	27 genes   110 pathways	923 patients Age distribution💬 283. Acquired pure red cell aplasia × Age Num 0-9 - 10-19 1 20-29 6 30-39 22 40-49 43 50-59 87 60-69 151 70-74 143 75- 470
284	Diamond-Blackfan anemia [Hem] 💬 284. Diamond-Blackfan anemia × [Hem] Hematologic diseases	39 trials    | 6 / 12 / 1 / 1 💬 284. Diamond-Blackfan anemia × Some trials have no Phase data.	95 drugs   [ 35 drugs ]	34 genes   131 pathways	29 patients Age distribution💬 284. Diamond-Blackfan anemia × Age Num 0-9 1 10-19 1 20-29 15 30-39 9 40-49 3 50-59 - 60-69 - 70-74 - 75- -
285	Fanconi anemia [Hem] 💬 285. Fanconi anemia × [Hem] Hematologic diseases	69 trials    | 17 / 30 / 3 / 0 💬 285. Fanconi anemia × Some trials have no Phase data.	109 drugs   [ 37 drugs ]	45 genes   169 pathways	13 patients Age distribution💬 285. Fanconi anemia × Age Num 0-9 1 10-19 - 20-29 6 30-39 6 40-49 - 50-59 - 60-69 - 70-74 - 75- -
286	Hereditary sideroblastic anemia [Hem] 💬 "Congenital sideroblastic anemia", "Sideroblastic anemia" 286. Hereditary sideroblastic anemia × [Hem] Hematologic diseases	7 trials    | 0 / 0 / 0 / 0 💬 286. Hereditary sideroblastic anemia × Some trials have no Phase data.	25 drugs   [ 10 drugs ]	19 genes   64 pathways	13 patients Age distribution💬 286. Hereditary sideroblastic anemia × Age Num 0-9 - 10-19 - 20-29 3 30-39 - 40-49 2 50-59 4 60-69 3 70-74 - 75- 1
288	Autoimmune acquired coagulation factor deficiency [Hem] 💬 "Coagulation factor deficiency", "Factor XIII deficiency", "Factor VIII deficiency", "Acquired hemophilia A", "VWF deficiency", "von Willebrand Disease", "VWD", "Factor V deficiency", "Factor X deficiency" 288. Autoimmune acquired coagulation factor deficiency × [Hem] Hematologic diseases	228 trials    | 6 / 24 / 105 / 24 💬 288. Autoimmune acquired coagulation factor deficiency × Some trials have no Phase data.	168 drugs   [ 33 drugs ]	12 genes   26 pathways	455 patients Age distribution💬 288. Autoimmune acquired coagulation factor deficiency × Age Num 0-9 - 10-19 1 20-29 1 30-39 8 40-49 8 50-59 29 60-69 64 70-74 64 75- 280
327	Idiopathic thrombosis [Hem] 💬 327. Idiopathic thrombosis × [Hem] Hematologic diseases	-	-	-	275 patients Age distribution💬 327. Idiopathic thrombosis × Age Num 0-9 - 10-19 1 20-29 49 30-39 64 40-49 63 50-59 45 60-69 38 70-74 9 75- 6
331	Idiopathic multicentric castleman disease [Hem] 💬 "iMCD", "Castleman disease" 331. Idiopathic multicentric castleman disease × [Hem] Hematologic diseases	40 trials    | 7 / 28 / 0 / 2 💬 331. Idiopathic multicentric castleman disease × Some trials have no Phase data.	45 drugs   [ 29 drugs ]	43 genes   163 pathways	1,884 patients Age distribution💬 331. Idiopathic multicentric castleman disease × Age Num 0-9 - 10-19 11 20-29 26 30-39 105 40-49 295 50-59 564 60-69 443 70-74 199 75- 241
347	Hemorrhagic disorders of fibrinolysis [Hem] 💬 "Hemorrhagic fibrinolytic disorder" 347. Hemorrhagic disorders of fibrinolysis × [Hem] Hematologic diseases	-	-	-	-