Disease The intractable diseases designated by MHLW, Japan

Diseases : 338 - Clinical trials : 34,520 / Drugs : 19,957 - ( DrugBank : 2,195 ) / Drug target genes : 613 - Drug target pathways : 297

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] 💬	149 trials    | 52 / 70 / 31 / 25 💬	202 drugs   [ 78 drugs ]	66 genes   169 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", "Usual interstitial pneumonia", "UIP", "Non-specific interstitial pneumonia", "NSIP", "Acute interstitial pneumonia", "AIP", "Diffuse alveolar damage", "DAD", "Cryptogenic organizing pneumonia", "COP", "Organizing pneumonia", "OP", "Desquamative interstitial pneumonia", "DIP", "Respiratory bronchiolitis - associated interstitial lung disease", "RB-ILD", "Lymphocytic interstitial pneumonia", "LIP"	627 trials    | 216 / 257 / 167 / 59 💬	443 drugs   [ 120 drugs ]	99 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", "IPAH", "HPAH", "Eisenmenger syndrome"	1,205 trials    | 404 / 309 / 485 / 170 💬	684 drugs   [ 124 drugs ]	100 genes   193 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] 💬 "Pulmonary capillary hemangiomatosis", "PVOD", "PCH"	3 trials    | 1 / 1 / 0 / 0 💬	4 drugs   [ 3 drugs ]	4 genes   45 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"	157 trials    | 77 / 51 / 70 / 18 💬	107 drugs   [ 22 drugs ]	14 genes   54 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", "Sporadic lymphangioleiomyomatosis", "Sporadic LAM", "Lymphangioleiomyomatosis with tuberous sclerosis", "TSC-LAM"	38 trials    | 14 / 18 / 8 / 2 💬	38 drugs   [ 15 drugs ]	18 genes   118 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"	97 trials    | 49 / 40 / 36 / 16 💬	118 drugs   [ 32 drugs ]	33 genes   156 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", "Autoimmune PAP", "Congenital PAP"	44 trials    | 31 / 21 / 27 / 5 💬	22 drugs   [ 7 drugs ]	3 genes   14 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", "Obesity hypoventilation syndrome", "OHS", "Congenital central hypoventilation syndrome", "CCHS", "Idiopathic central alveolar hypoventilation", "ICAH"	6 trials    | 0 / 2 / 2 / 0 💬	7 drugs   [ 4 drugs ]	16 genes   26 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"	93 trials    | 47 / 59 / 29 / 8 💬	77 drugs   [ 8 drugs ]	10 genes   36 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"	6 trials    | 2 / 2 / 1 / 0 💬	2 drugs   [ 2 drugs ]	1 gene   51 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"	19 trials    | 12 / 10 / 4 / 4 💬	22 drugs   [ 7 drugs ]	5 genes   63 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] 💬	16 trials    | 6 / 4 / 6 / 3 💬	26 drugs   [ 5 drugs ]	5 genes   14 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"	1 trial    | 0 / 1 / 0 / 0 💬	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- -