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)
60	Aplastic anemia [Hem] 💬 60. Aplastic anemia × [Hem] Hematologic diseases	357 trials    | 56 / 190 / 37 / 42 💬 60. Aplastic anemia × Some trials have no Phase data.	477 drugs   [ 94 drugs ]	57 genes   184 pathways	8,490 patients Age distribution💬 60. Aplastic anemia × Age Num 0-9 1 10-19 35 20-29 417 30-39 478 40-49 672 50-59 1,072 60-69 1,459 70-74 1,081 75- 3,275
61	Autoimmune hemolytic anemia [Hem] 💬 "AIHA", "Cold agglutinin disease", "CAD", "Paroxysmal cold hemoglobinuria", "Evans syndrome" 61. Autoimmune hemolytic anemia × [Hem] Hematologic diseases	218 trials    | 27 / 85 / 85 / 4 💬 61. Autoimmune hemolytic anemia × Some trials have no Phase data.	186 drugs   [ 42 drugs ]	27 genes   158 pathways	1,536 patients Age distribution💬 61. Autoimmune hemolytic anemia × Age Num 0-9 - 10-19 - 20-29 39 30-39 41 40-49 96 50-59 152 60-69 289 70-74 217 75- 702
62	Paroxysmal nocturnal hemoglobinuria [Hem] 💬 "PNH" 62. Paroxysmal nocturnal hemoglobinuria × [Hem] Hematologic diseases	380 trials    | 34 / 115 / 203 / 5 💬 62. Paroxysmal nocturnal hemoglobinuria × Some trials have no Phase data.	240 drugs   [ 38 drugs ]	28 genes   122 pathways	1,264 patients Age distribution💬 62. Paroxysmal nocturnal hemoglobinuria × Age Num 0-9 - 10-19 3 20-29 66 30-39 114 40-49 167 50-59 222 60-69 191 70-74 117 75- 384
63	Idiopathic thrombocytopenic purpura [Hem] 💬 "Immune thrombocytopenia", "Primary immune thrombocytopenia", "Autoimmune thrombocytopenic purpura", "Immune thrombocytopenic purpura" 63. Idiopathic thrombocytopenic purpura × [Hem] Hematologic diseases	868 trials    | 65 / 231 / 314 / 60 💬 63. Idiopathic thrombocytopenic purpura × Some trials have no Phase data.	544 drugs   [ 96 drugs ]	82 genes   195 pathways	16,592 patients Age distribution💬 63. Idiopathic thrombocytopenic purpura × Age Num 0-9 4 10-19 50 20-29 548 30-39 784 40-49 1,302 50-59 2,012 60-69 2,706 70-74 2,021 75- 7,165
64	Thrombotic thrombocytopenic purpura [Hem] 💬 "TTP", "Upshaw-Schulman syndrome", "USS" 64. Thrombotic thrombocytopenic purpura × [Hem] Hematologic diseases	114 trials    | 6 / 34 / 54 / 3 💬 64. Thrombotic thrombocytopenic purpura × Some trials have no Phase data.	119 drugs   [ 17 drugs ]	16 genes   63 pathways	438 patients Age distribution💬 64. Thrombotic thrombocytopenic purpura × Age Num 0-9 - 10-19 3 20-29 26 30-39 33 40-49 63 50-59 82 60-69 79 70-74 51 75- 101
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", "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	866 trials    | 133 / 273 / 341 / 54 💬 65. Primary immunodeficiency × Some trials have no Phase data.	858 drugs   [ 122 drugs ]	108 genes   232 pathways	2,289 patients Age distribution💬 65. Primary immunodeficiency × Age Num 0-9 4 10-19 56 20-29 482 30-39 468 40-49 492 50-59 409 60-69 217 70-74 61 75- 100
282	Congenital dyserythropoietic anemia [Hem] 💬 "CDA" 282. Congenital dyserythropoietic anemia × [Hem] Hematologic diseases	4 trials    | 1 / 2 / 0 / 1 💬 282. Congenital dyserythropoietic anemia × Some trials have no Phase data.	7 drugs   [ 3 drugs ]	4 genes   10 pathways	14 patients Age distribution💬 282. Congenital dyserythropoietic anemia × Age Num 0-9 - 10-19 - 20-29 3 30-39 3 40-49 1 50-59 1 60-69 4 70-74 - 75- 2
283	Acquired pure red cell aplasia [Hem] 💬 "Pure red cell aplasia" 283. Acquired pure red cell aplasia × [Hem] Hematologic diseases	25 trials    | 2 / 11 / 3 / 3 💬 283. Acquired pure red cell aplasia × Some trials have no Phase data.	41 drugs   [ 22 drugs ]	17 genes   99 pathways	985 patients Age distribution💬 283. Acquired pure red cell aplasia × Age Num 0-9 - 10-19 1 20-29 7 30-39 20 40-49 43 50-59 91 60-69 162 70-74 136 75- 525
284	Diamond-Blackfan anemia [Hem] 💬 284. Diamond-Blackfan anemia × [Hem] Hematologic diseases	41 trials    | 7 / 12 / 1 / 1 💬 284. Diamond-Blackfan anemia × Some trials have no Phase data.	123 drugs   [ 34 drugs ]	24 genes   125 pathways	28 patients Age distribution💬 284. Diamond-Blackfan anemia × Age Num 0-9 - 10-19 - 20-29 15 30-39 9 40-49 4 50-59 - 60-69 - 70-74 - 75- -
285	Fanconi anemia [Hem] 💬 285. Fanconi anemia × [Hem] Hematologic diseases	72 trials    | 18 / 31 / 3 / 0 💬 285. Fanconi anemia × Some trials have no Phase data.	131 drugs   [ 32 drugs ]	34 genes   172 pathways	12 patients Age distribution💬 285. Fanconi anemia × Age Num 0-9 1 10-19 - 20-29 6 30-39 3 40-49 2 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.	27 drugs   [ 7 drugs ]	8 genes   40 pathways	13 patients Age distribution💬 286. Hereditary sideroblastic anemia × Age Num 0-9 - 10-19 - 20-29 2 30-39 - 40-49 2 50-59 4 60-69 3 70-74 - 75- 2
288	Autoimmune acquired coagulation factor deficiency [Hem] 💬 "Coagulation factor deficiency", "Acquired factor XIII deficiency", "Autoimmune acquired factor XIII (F13) deficiency", "Acquired factor VIII deficiency", "Autoimmune acquired factor VIII (F8) deficiency", "Acquired hemophilia A", "VWF deficiency", "Acquired von Willebrand syndrome", "Acquired von Willebrand Disease", "AVWS", "AVWD", "Acquired factor V deficiency", "Autoimmune acquired factor V (F5) deficiency", "Acquired factor X deficiency" 288. Autoimmune acquired coagulation factor deficiency × [Hem] Hematologic diseases	35 trials    | 0 / 13 / 6 / 6 💬 288. Autoimmune acquired coagulation factor deficiency × Some trials have no Phase data.	45 drugs   [ 11 drugs ]	8 genes   19 pathways	496 patients Age distribution💬 288. Autoimmune acquired coagulation factor deficiency × Age Num 0-9 - 10-19 1 20-29 2 30-39 8 40-49 8 50-59 26 60-69 77 70-74 63 75- 311
327	Idiopathic thrombosis [Hem] 💬 "Inherited thrombophilia" 327. Idiopathic thrombosis × [Hem] Hematologic diseases	3 trials    | 0 / 0 / 2 / 0 💬 327. Idiopathic thrombosis × Some trials have no Phase data.	13 drugs   [ 3 drugs ]	1 gene   1 pathway	311 patients Age distribution💬 327. Idiopathic thrombosis × Age Num 0-9 - 10-19 3 20-29 48 30-39 77 40-49 61 50-59 56 60-69 44 70-74 9 75- 13
331	Idiopathic multicentric castleman disease [Hem] 💬 "iMCD", "Castleman disease" 331. Idiopathic multicentric castleman disease × [Hem] Hematologic diseases	44 trials    | 7 / 29 / 0 / 2 💬 331. Idiopathic multicentric castleman disease × Some trials have no Phase data.	58 drugs   [ 32 drugs ]	43 genes   168 pathways	2,059 patients Age distribution💬 331. Idiopathic multicentric castleman disease × Age Num 0-9 - 10-19 9 20-29 30 30-39 108 40-49 307 50-59 606 60-69 491 70-74 210 75- 298
347	Hemorrhagic disorders of fibrinolysis [Hem] 💬 "Hemorrhagic fibrinolytic disorder" 347. Hemorrhagic disorders of fibrinolysis × [Hem] Hematologic diseases	-	-	-	-