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)
84	Sarcoidosis [Resp] 💬 84. Sarcoidosis × [Resp] Respiratory diseases	175 trials    | 11 / 80 / 31 / 23 💬 84. Sarcoidosis × Some trials have no Phase data.	189 drugs   [ 80 drugs ]	74 genes   177 pathways	15,858 patients Age distribution💬 84. Sarcoidosis × Age Num 0-9 1 10-19 11 20-29 63 30-39 428 40-49 1,420 50-59 2,638 60-69 4,188 70-74 2,560 75- 4,549
85	Idiopathic interstitial pneumonia [Resp] 💬 "IIPs", "Idiopathic pulmonary fibrosis", "IPF", "Idiopathic non-specific interstitial pneumonia", "Idiopathic NSIP", "Respiratory bronchiolitis - associated interstitial lung disease", "RB-ILD", "Desquamative interstitial pneumonia", "DIP", "Cryptogenic organizing pneumonia", "COP", "Acute interstitial pneumonia", "AIP", "Idiopathic lymphocytic interstitial pneumonia", "Idiopathic LIP", "Idiopathic PPFE" 85. Idiopathic interstitial pneumonia × [Resp] Respiratory diseases	723 trials    | 89 / 288 / 172 / 33 💬 85. Idiopathic interstitial pneumonia × Some trials have no Phase data.	411 drugs   [ 126 drugs ]	104 genes   212 pathways	19,127 patients Age distribution💬 85. Idiopathic interstitial pneumonia × Age Num 0-9 - 10-19 3 20-29 16 30-39 43 40-49 198 50-59 882 60-69 3,576 70-74 4,301 75- 10,108
86	Pulmonary arterial hypertension [Resp] 💬 "PAH" 86. Pulmonary arterial hypertension × [Resp] Respiratory diseases	1,288 trials    | 87 / 295 / 486 / 116 💬 86. Pulmonary arterial hypertension × Some trials have no Phase data.	565 drugs   [ 126 drugs ]	81 genes   191 pathways	4,682 patients Age distribution💬 86. Pulmonary arterial hypertension × Age Num 0-9 - 10-19 8 20-29 324 30-39 501 40-49 607 50-59 754 60-69 835 70-74 546 75- 1,107
87	Pulmonary veno-occlusive disease [Resp] 💬 "PVOD", "Pulmonary capillary hemangiomatosis", "PCH" 87. Pulmonary veno-occlusive disease × [Resp] Respiratory diseases	3 trials    | 1 / 1 / 0 / 0 💬 87. Pulmonary veno-occlusive disease × Some trials have no Phase data.	3 drugs   [ 3 drugs ]	4 genes   44 pathways	23 patients Age distribution💬 87. Pulmonary veno-occlusive disease × Age Num 0-9 - 10-19 - 20-29 2 30-39 3 40-49 3 50-59 5 60-69 3 70-74 2 75- 5
88	Chronic thromboembolic pulmonary hypertension [Resp] 💬 "CTEPH", "Idiopathic chronic pulmonary thromboembolism" 88. Chronic thromboembolic pulmonary hypertension × [Resp] Respiratory diseases	174 trials    | 0 / 33 / 60 / 3 💬 88. Chronic thromboembolic pulmonary hypertension × Some trials have no Phase data.	99 drugs   [ 19 drugs ]	17 genes   79 pathways	5,543 patients Age distribution💬 88. Chronic thromboembolic pulmonary hypertension × Age Num 0-9 - 10-19 - 20-29 17 30-39 62 40-49 272 50-59 723 60-69 990 70-74 843 75- 2,636
89	Lymphangioleiomyomatosis [Resp] 💬 "LAM" 89. Lymphangioleiomyomatosis × [Resp] Respiratory diseases	44 trials    | 10 / 19 / 8 / 1 💬 89. Lymphangioleiomyomatosis × Some trials have no Phase data.	44 drugs   [ 20 drugs ]	27 genes   138 pathways	954 patients Age distribution💬 89. Lymphangioleiomyomatosis × Age Num 0-9 - 10-19 - 20-29 14 30-39 132 40-49 289 50-59 361 60-69 104 70-74 27 75- 27
228	Bronchiolitis obliterans [Resp] 💬 "Obliterating bronchiolitis" 228. Bronchiolitis obliterans × [Resp] Respiratory diseases	108 trials    | 10 / 37 / 38 / 8 💬 228. Bronchiolitis obliterans × Some trials have no Phase data.	95 drugs   [ 30 drugs ]	34 genes   158 pathways	40 patients Age distribution💬 228. Bronchiolitis obliterans × Age Num 0-9 - 10-19 1 20-29 9 30-39 4 40-49 5 50-59 6 60-69 6 70-74 5 75- 4
229	Autoimmune pulmonary alveolar proteinosis [Resp] 💬 "Congenital pulmonary alveolar proteinosis", "Hereditary pulmonary alveolar proteinosis", "Pulmonary alveolar proteinosis", "PAP", "Alveolar proteinosis" 229. Autoimmune pulmonary alveolar proteinosis × [Resp] Respiratory diseases	46 trials    | 6 / 18 / 27 / 0 💬 229. Autoimmune pulmonary alveolar proteinosis × Some trials have no Phase data.	23 drugs   [ 7 drugs ]	3 genes   15 pathways	277 patients Age distribution💬 229. Autoimmune pulmonary alveolar proteinosis × Age Num 0-9 - 10-19 1 20-29 7 30-39 10 40-49 25 50-59 56 60-69 81 70-74 36 75- 61
230	Alveolar hypoventilation syndrome [Resp] 💬 "AHS", "Hypoventilation syndrome" 230. Alveolar hypoventilation syndrome × [Resp] Respiratory diseases	9 trials    | 0 / 5 / 2 / 0 💬 230. Alveolar hypoventilation syndrome × Some trials have no Phase data.	13 drugs   [ 6 drugs ]	17 genes   27 pathways	181 patients Age distribution💬 230. Alveolar hypoventilation syndrome × Age Num 0-9 2 10-19 3 20-29 38 30-39 22 40-49 24 50-59 37 60-69 25 70-74 9 75- 21
231	Alpha-1-antitrypsin deficiency [Resp] 💬 "AATD" 231. Alpha-1-antitrypsin deficiency × [Resp] Respiratory diseases	107 trials    | 18 / 64 / 29 / 1 💬 231. Alpha-1-antitrypsin deficiency × Some trials have no Phase data.	88 drugs   [ 17 drugs ]	36 genes   50 pathways	15 patients Age distribution💬 231. Alpha-1-antitrypsin deficiency × Age Num 0-9 - 10-19 - 20-29 - 30-39 2 40-49 2 50-59 4 60-69 4 70-74 1 75- 2
277	Lymphangiomatosis [Resp] 💬 "Generalized lymphatic anomaly", "Gorham disease", "Gorham-Stout disease", "Diffuse lymphangiomatosis", "Mass osteolysis" 277. Lymphangiomatosis × [Resp] Respiratory diseases	6 trials    | 2 / 2 / 1 / 0 💬 277. Lymphangiomatosis × Some trials have no Phase data.	2 drugs   [ 2 drugs ]	1 gene   49 pathways	85 patients Age distribution💬 277. Lymphangiomatosis × Age Num 0-9 - 10-19 1 20-29 29 30-39 20 40-49 10 50-59 8 60-69 10 70-74 6 75- 1
278	Huge lymphatic malformation with cervicofacial lesion [Resp] 💬 "Huge lymphatic malformation", "Lymphatic malformation" 278. Huge lymphatic malformation with cervicofacial lesion × [Resp] Respiratory diseases	32 trials    | 2 / 16 / 4 / 2 💬 278. Huge lymphatic malformation with cervicofacial lesion × Some trials have no Phase data.	32 drugs   [ 12 drugs ]	8 genes   136 pathways	36 patients Age distribution💬 278. Huge lymphatic malformation with cervicofacial lesion × Age Num 0-9 - 10-19 1 20-29 21 30-39 11 40-49 - 50-59 2 60-69 - 70-74 - 75- 1
294	Congenital diaphragmatic hernia [Resp] 💬 294. Congenital diaphragmatic hernia × [Resp] Respiratory diseases	18 trials    | 1 / 3 / 7 / 2 💬 294. Congenital diaphragmatic hernia × Some trials have no Phase data.	31 drugs   [ 5 drugs ]	5 genes   13 pathways	13 patients Age distribution💬 294. Congenital diaphragmatic hernia × Age Num 0-9 - 10-19 2 20-29 7 30-39 3 40-49 - 50-59 - 60-69 - 70-74 1 75- -
330	Congenital tracheal stenosis [Resp] 💬 [Hear] 💬 "Congenital subglottic stenosis", "Congenital tracheal stenosis", "Congenital subglottic stenosis" 330. Congenital tracheal stenosis × [Resp] Respiratory diseases [Hear] Hearing and balance disorders	2 trials    | 0 / 1 / 0 / 0 💬 330. Congenital tracheal stenosis × Some trials have no Phase data.	3 drugs   [ 2 drugs ]	-	51 patients Age distribution💬 330. Congenital tracheal stenosis × Age Num 0-9 3 10-19 2 20-29 43 30-39 3 40-49 - 50-59 - 60-69 - 70-74 - 75- -
340	Primary ciliary dyskinesia [Resp] 💬 "PCD", "Kartagener syndrome", "KS" 340. Primary ciliary dyskinesia × [Resp] Respiratory diseases	23 trials    | 3 / 7 / 4 / 0 💬 340. Primary ciliary dyskinesia × Some trials have no Phase data.	29 drugs   [ 8 drugs ]	2 genes   18 pathways	-