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)
84	Sarcoidosis [Resp] 💬 84. Sarcoidosis × [Resp] Respiratory diseases	196 trials    | 11 / 83 / 31 / 23 💬 84. Sarcoidosis × Some trials have no Phase data.	261 drugs   [ 78 drugs ]	73 genes   183 pathways	16,168 patients Age distribution💬 84. Sarcoidosis × Age Num 0-9 2 10-19 6 20-29 60 30-39 391 40-49 1,404 50-59 2,694 60-69 4,321 70-74 2,501 75- 4,789
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	768 trials    | 99 / 307 / 175 / 33 💬 85. Idiopathic interstitial pneumonia × Some trials have no Phase data.	558 drugs   [ 126 drugs ]	103 genes   214 pathways	22,067 patients Age distribution💬 85. Idiopathic interstitial pneumonia × Age Num 0-9 - 10-19 1 20-29 14 30-39 57 40-49 214 50-59 1,047 60-69 3,981 70-74 4,650 75- 12,103
86	Pulmonary arterial hypertension [Resp] 💬 "PAH" 86. Pulmonary arterial hypertension × [Resp] Respiratory diseases	1,348 trials    | 95 / 311 / 494 / 121 💬 86. Pulmonary arterial hypertension × Some trials have no Phase data.	828 drugs   [ 133 drugs ]	82 genes   197 pathways	4,910 patients Age distribution💬 86. Pulmonary arterial hypertension × Age Num 0-9 - 10-19 8 20-29 305 30-39 517 40-49 619 50-59 789 60-69 898 70-74 512 75- 1,262
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.	4 drugs   [ 2 drugs ]	4 genes   47 pathways	21 patients Age distribution💬 87. Pulmonary veno-occlusive disease × Age Num 0-9 - 10-19 1 20-29 1 30-39 3 40-49 3 50-59 4 60-69 3 70-74 - 75- 6
88	Chronic thromboembolic pulmonary hypertension [Resp] 💬 "CTEPH", "Idiopathic chronic pulmonary thromboembolism" 88. Chronic thromboembolic pulmonary hypertension × [Resp] Respiratory diseases	187 trials    | 0 / 33 / 62 / 3 💬 88. Chronic thromboembolic pulmonary hypertension × Some trials have no Phase data.	144 drugs   [ 24 drugs ]	18 genes   82 pathways	5,808 patients Age distribution💬 88. Chronic thromboembolic pulmonary hypertension × Age Num 0-9 - 10-19 - 20-29 14 30-39 58 40-49 253 50-59 774 60-69 1,046 70-74 837 75- 2,826
89	Lymphangioleiomyomatosis [Resp] 💬 "LAM" 89. Lymphangioleiomyomatosis × [Resp] Respiratory diseases	44 trials    | 10 / 19 / 8 / 1 💬 89. Lymphangioleiomyomatosis × Some trials have no Phase data.	54 drugs   [ 19 drugs ]	27 genes   143 pathways	983 patients Age distribution💬 89. Lymphangioleiomyomatosis × Age Num 0-9 - 10-19 - 20-29 15 30-39 126 40-49 286 50-59 371 60-69 124 70-74 28 75- 33
228	Bronchiolitis obliterans [Resp] 💬 "Obliterating bronchiolitis" 228. Bronchiolitis obliterans × [Resp] Respiratory diseases	112 trials    | 10 / 37 / 38 / 9 💬 228. Bronchiolitis obliterans × Some trials have no Phase data.	139 drugs   [ 31 drugs ]	33 genes   161 pathways	43 patients Age distribution💬 228. Bronchiolitis obliterans × Age Num 0-9 - 10-19 - 20-29 12 30-39 5 40-49 5 50-59 5 60-69 7 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	49 trials    | 6 / 20 / 28 / 0 💬 229. Autoimmune pulmonary alveolar proteinosis × Some trials have no Phase data.	36 drugs   [ 6 drugs ]	3 genes   15 pathways	328 patients Age distribution💬 229. Autoimmune pulmonary alveolar proteinosis × Age Num 0-9 - 10-19 2 20-29 10 30-39 8 40-49 26 50-59 69 60-69 84 70-74 47 75- 82
230	Alveolar hypoventilation syndrome [Resp] 💬 "AHS", "Hypoventilation syndrome" 230. Alveolar hypoventilation syndrome × [Resp] Respiratory diseases	13 trials    | 0 / 5 / 2 / 0 💬 230. Alveolar hypoventilation syndrome × Some trials have no Phase data.	25 drugs   [ 7 drugs ]	16 genes   26 pathways	191 patients Age distribution💬 230. Alveolar hypoventilation syndrome × Age Num 0-9 3 10-19 1 20-29 47 30-39 20 40-49 18 50-59 44 60-69 30 70-74 11 75- 17
231	Alpha-1-antitrypsin deficiency [Resp] 💬 "AATD" 231. Alpha-1-antitrypsin deficiency × [Resp] Respiratory diseases	119 trials    | 22 / 66 / 32 / 2 💬 231. Alpha-1-antitrypsin deficiency × Some trials have no Phase data.	126 drugs   [ 15 drugs ]	33 genes   42 pathways	16 patients Age distribution💬 231. Alpha-1-antitrypsin deficiency × Age Num 0-9 - 10-19 - 20-29 - 30-39 3 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   52 pathways	93 patients Age distribution💬 277. Lymphangiomatosis × Age Num 0-9 - 10-19 1 20-29 32 30-39 24 40-49 10 50-59 9 60-69 8 70-74 5 75- 4
278	Huge lymphatic malformation with cervicofacial lesion [Resp] 💬 "Huge lymphatic malformation", "Lymphatic malformation", "Lymphangioma" 278. Huge lymphatic malformation with cervicofacial lesion × [Resp] Respiratory diseases	47 trials    | 3 / 20 / 7 / 2 💬 278. Huge lymphatic malformation with cervicofacial lesion × Some trials have no Phase data.	48 drugs   [ 15 drugs ]	8 genes   142 pathways	41 patients Age distribution💬 278. Huge lymphatic malformation with cervicofacial lesion × Age Num 0-9 - 10-19 2 20-29 23 30-39 11 40-49 - 50-59 4 60-69 - 70-74 - 75- 1
294	Congenital diaphragmatic hernia [Resp] 💬 294. Congenital diaphragmatic hernia × [Resp] Respiratory diseases	21 trials    | 1 / 3 / 7 / 3 💬 294. Congenital diaphragmatic hernia × Some trials have no Phase data.	42 drugs   [ 7 drugs ]	5 genes   13 pathways	15 patients Age distribution💬 294. Congenital diaphragmatic hernia × Age Num 0-9 1 10-19 2 20-29 8 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 ]	-	68 patients Age distribution💬 330. Congenital tracheal stenosis × Age Num 0-9 3 10-19 - 20-29 61 30-39 3 40-49 - 50-59 - 60-69 - 70-74 - 75- 1
340	Primary ciliary dyskinesia [Resp] 💬 "PCD", "Kartagener syndrome", "KS" 340. Primary ciliary dyskinesia × [Resp] Respiratory diseases	27 trials    | 3 / 7 / 4 / 0 💬 340. Primary ciliary dyskinesia × Some trials have no Phase data.	47 drugs   [ 12 drugs ]	7 genes   26 pathways	74 patients Age distribution💬 340. Primary ciliary dyskinesia × Age Num 0-9 - 10-19 4 20-29 15 30-39 20 40-49 10 50-59 16 60-69 6 70-74 - 75- 3