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)
47	Buerger disease [Card] 💬 "Thromboangiitis obliterans" 47. Buerger disease × [Card] Cardiovascular diseases	21 trials    | 2 / 3 / 1 / 2 💬 47. Buerger disease × Some trials have no Phase data.	26 drugs   [ 14 drugs ]	7 genes   19 pathways	1,309 patients Age distribution💬 47. Buerger disease × Age Num 0-9 - 10-19 1 20-29 7 30-39 19 40-49 92 50-59 279 60-69 292 70-74 187 75- 432
57	Idiopathic dilated cardiomyopathy [Card] 💬 "Dilated cardiomyopathy", "DCM" 57. Idiopathic dilated cardiomyopathy × [Card] Cardiovascular diseases	148 trials    | 26 / 46 / 33 / 12 💬 57. Idiopathic dilated cardiomyopathy × Some trials have no Phase data.	217 drugs   [ 60 drugs ]	46 genes   143 pathways	17,960 patients Age distribution💬 57. Idiopathic dilated cardiomyopathy × Age Num 0-9 2 10-19 4 20-29 241 30-39 686 40-49 1,825 50-59 3,950 60-69 4,540 70-74 2,388 75- 4,324
58	Hypertrophic cardiomyopathy [Card] 💬 "HCM" 58. Hypertrophic cardiomyopathy × [Card] Cardiovascular diseases	227 trials    | 13 / 73 / 69 / 16 💬 58. Hypertrophic cardiomyopathy × Some trials have no Phase data.	219 drugs   [ 49 drugs ]	51 genes   190 pathways	4,466 patients Age distribution💬 58. Hypertrophic cardiomyopathy × Age Num 0-9 - 10-19 5 20-29 143 30-39 169 40-49 329 50-59 751 60-69 993 70-74 655 75- 1,421
59	Restricted cardiomyopathy [Card] 💬 "Restrictive cardiomyopathy", "Constrictive cardiomyopathy" 59. Restricted cardiomyopathy × [Card] Cardiovascular diseases	1 trial    | 0 / 0 / 0 / 0 💬 59. Restricted cardiomyopathy × Some trials have no Phase data.	3 drugs   [ - ]	-	65 patients Age distribution💬 59. Restricted cardiomyopathy × Age Num 0-9 - 10-19 1 20-29 23 30-39 13 40-49 6 50-59 7 60-69 8 70-74 2 75- 5
167	Marfan syndrome [Card] 💬 "Loeys-Dietz syndrome", "LDS" 167. Marfan syndrome × [Card] Cardiovascular diseases	26 trials    | 0 / 4 / 12 / 2 💬 167. Marfan syndrome × Some trials have no Phase data.	50 drugs   [ 11 drugs ]	10 genes   52 pathways	1,411 patients Age distribution💬 167. Marfan syndrome × Age Num 0-9 - 10-19 26 20-29 239 30-39 281 40-49 342 50-59 304 60-69 157 70-74 40 75- 22
179	Williams syndrome [Card] 💬 "Williams-Beuren syndrome", "WBS" 179. Williams syndrome × [Card] Cardiovascular diseases	12 trials    | 0 / 5 / 0 / 2 💬 179. Williams syndrome × Some trials have no Phase data.	21 drugs   [ 8 drugs ]	9 genes   35 pathways	62 patients Age distribution💬 179. Williams syndrome × Age Num 0-9 - 10-19 4 20-29 38 30-39 10 40-49 7 50-59 3 60-69 - 70-74 - 75- -
188	Polysplenia syndrome [Card] 💬 188. Polysplenia syndrome × [Card] Cardiovascular diseases	-	-	-	63 patients Age distribution💬 188. Polysplenia syndrome × Age Num 0-9 1 10-19 2 20-29 38 30-39 15 40-49 1 50-59 3 60-69 2 70-74 - 75- 1
189	Asplenia syndrome [Card] 💬 189. Asplenia syndrome × [Card] Cardiovascular diseases	-	-	-	104 patients Age distribution💬 189. Asplenia syndrome × Age Num 0-9 - 10-19 1 20-29 82 30-39 17 40-49 4 50-59 - 60-69 - 70-74 - 75- -
203	22q11.2 deletion syndrome [Card] 💬 203. 22q11.2 deletion syndrome × [Card] Cardiovascular diseases	5 trials    | 2 / 1 / 1 / 0 💬 203. 22q11.2 deletion syndrome × Some trials have no Phase data.	7 drugs   [ 1 drug ]	14 genes   24 pathways	95 patients Age distribution💬 203. 22q11.2 deletion syndrome × Age Num 0-9 - 10-19 6 20-29 54 30-39 19 40-49 9 50-59 6 60-69 1 70-74 - 75- -
207	Persistent truncus arteriosus [Card] 💬 "Truncus arteriosus communis" 207. Persistent truncus arteriosus × [Card] Cardiovascular diseases	-	-	-	50 patients Age distribution💬 207. Persistent truncus arteriosus × Age Num 0-9 - 10-19 - 20-29 36 30-39 11 40-49 2 50-59 1 60-69 - 70-74 - 75- -
208	Corrected transposition of great arteries [Card] 💬 "Congenitally corrected transposition of the great arteries" 208. Corrected transposition of great arteries × [Card] Cardiovascular diseases	2 trials    | 0 / 0 / 1 / 0 💬 208. Corrected transposition of great arteries × Some trials have no Phase data.	2 drugs   [ - ]	-	271 patients Age distribution💬 208. Corrected transposition of great arteries × Age Num 0-9 1 10-19 4 20-29 113 30-39 49 40-49 44 50-59 31 60-69 17 70-74 5 75- 7
209	Complete transposition of great vessel [Card] 💬 "Complete transposition of great arteries", "Complete TGA", "Complete transposition of the great arteries" 209. Complete transposition of great vessel × [Card] Cardiovascular diseases	-	-	-	378 patients Age distribution💬 209. Complete transposition of great vessel × Age Num 0-9 1 10-19 5 20-29 232 30-39 73 40-49 53 50-59 13 60-69 1 70-74 - 75- -
210	Single Ventricle [Card] 💬 "SV", "Single ventricle heart defect", "Univentricular heart", "UVH", "Single ventricular circulation syndrome" 210. Single Ventricle × [Card] Cardiovascular diseases	61 trials    | 11 / 15 / 25 / 4 💬 210. Single Ventricle × Some trials have no Phase data.	70 drugs   [ 25 drugs ]	35 genes   78 pathways	620 patients Age distribution💬 210. Single Ventricle × Age Num 0-9 - 10-19 11 20-29 445 30-39 92 40-49 57 50-59 14 60-69 - 70-74 1 75- -
211	Hypoplastic left heart syndrome [Card] 💬 "HLHS" 211. Hypoplastic left heart syndrome × [Card] Cardiovascular diseases	25 trials    | 10 / 7 / 1 / 0 💬 211. Hypoplastic left heart syndrome × Some trials have no Phase data.	37 drugs   [ 10 drugs ]	5 genes   13 pathways	107 patients Age distribution💬 211. Hypoplastic left heart syndrome × Age Num 0-9 1 10-19 2 20-29 101 30-39 3 40-49 - 50-59 - 60-69 - 70-74 - 75- -
212	Tricuspid atresia [Card] 💬 "TA" 212. Tricuspid atresia × [Card] Cardiovascular diseases	5 trials    | 1 / 0 / 0 / 0 💬 212. Tricuspid atresia × Some trials have no Phase data.	6 drugs   [ 4 drugs ]	8 genes   13 pathways	248 patients Age distribution💬 212. Tricuspid atresia × Age Num 0-9 1 10-19 2 20-29 160 30-39 53 40-49 22 50-59 8 60-69 2 70-74 - 75- -
213	Pulmonary atresia without ventricular septum defect [Card] 💬 "Pulmonary atresia with intact ventricular septum", "Pulmonary atresia" 213. Pulmonary atresia without ventricular septum defect × [Card] Cardiovascular diseases	-	-	-	224 patients Age distribution💬 213. Pulmonary atresia without ventricular septum defect × Age Num 0-9 1 10-19 8 20-29 159 30-39 40 40-49 13 50-59 3 60-69 - 70-74 - 75- -
214	Pulmonary atresia with ventricular septum defect [Card] 💬 "PAVSD", "Pulmonary atresia with ventricular septal defect", "Pulmonary atresia" 214. Pulmonary atresia with ventricular septum defect × [Card] Cardiovascular diseases	5 trials    | 0 / 0 / 0 / 1 💬 214. Pulmonary atresia with ventricular septum defect × Some trials have no Phase data.	6 drugs   [ 6 drugs ]	1 gene   1 pathway	172 patients Age distribution💬 214. Pulmonary atresia with ventricular septum defect × Age Num 0-9 - 10-19 5 20-29 118 30-39 32 40-49 13 50-59 2 60-69 2 70-74 - 75- -
215	Tetralogy of Fallot [Card] 💬 "Fallot tetralogy" 215. Tetralogy of Fallot × [Card] Cardiovascular diseases	28 trials    | 3 / 5 / 2 / 2 💬 215. Tetralogy of Fallot × Some trials have no Phase data.	55 drugs   [ 19 drugs ]	16 genes   50 pathways	995 patients Age distribution💬 215. Tetralogy of Fallot × Age Num 0-9 3 10-19 25 20-29 481 30-39 171 40-49 146 50-59 110 60-69 45 70-74 9 75- 5
216	Double-outlet right ventricle [Card] 💬 216. Double-outlet right ventricle × [Card] Cardiovascular diseases	1 trial    | 0 / 0 / 0 / 0 💬 216. Double-outlet right ventricle × Some trials have no Phase data.	9 drugs   [ 2 drugs ]	4 genes   16 pathways	405 patients Age distribution💬 216. Double-outlet right ventricle × Age Num 0-9 5 10-19 6 20-29 303 30-39 62 40-49 21 50-59 5 60-69 2 70-74 1 75- -
217	Ebstein disease [Card] 💬 "Ebstein malformation", "Ebstein anomaly" 217. Ebstein disease × [Card] Cardiovascular diseases	1 trial    | 1 / 0 / 0 / 0 💬 217. Ebstein disease × Some trials have no Phase data.	2 drugs   [ - ]	-	158 patients Age distribution💬 217. Ebstein disease × Age Num 0-9 1 10-19 3 20-29 51 30-39 18 40-49 19 50-59 23 60-69 25 70-74 7 75- 11
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion [Card] 💬 oral and pharyngeal diffuse lesion", "Huge venous malformation", "Venous malformation", "Gigantic venous malformation" 279. Huge venous malformation with cervical, oral and pharyngeal diffuse lesion × [Card] Cardiovascular diseases	28 trials    | 1 / 8 / 1 / 3 💬 279. Huge venous malformation with cervical, oral and pharyngeal diffuse lesion × Some trials have no Phase data.	36 drugs   [ 15 drugs ]	6 genes   138 pathways	79 patients Age distribution💬 279. Huge venous malformation with cervical, oral and pharyngeal diffuse lesion × Age Num 0-9 - 10-19 2 20-29 19 30-39 12 40-49 16 50-59 13 60-69 11 70-74 4 75- 2
280	Huge arteriovenous malformation with cervicofacial or limb lesion [Card] 💬 "Huge arteriovenous malformation", "Arteriovenous malformation", "Gigantic arteriovenous malformation" 280. Huge arteriovenous malformation with cervicofacial or limb lesion × [Card] Cardiovascular diseases	36 trials    | 5 / 6 / 0 / 2 💬 280. Huge arteriovenous malformation with cervicofacial or limb lesion × Some trials have no Phase data.	41 drugs   [ 17 drugs ]	12 genes   169 pathways	126 patients Age distribution💬 280. Huge arteriovenous malformation with cervicofacial or limb lesion × Age Num 0-9 - 10-19 1 20-29 28 30-39 26 40-49 25 50-59 25 60-69 12 70-74 7 75- 2
281	Klippel-Trenaunay-Weber syndrome [Card] 💬 "Klippel-Trénaunay-Weber syndrome", "Klippel-Trenauney-Weber syndrome", "Klippel-Trenaunay syndrome", "Klippel-Trenauney syndrome", "KTS", "Parkes Weber syndrome", "PWS" 281. Klippel-Trenaunay-Weber syndrome × [Card] Cardiovascular diseases	4 trials    | 0 / 0 / 0 / 0 💬 281. Klippel-Trenaunay-Weber syndrome × Some trials have no Phase data.	4 drugs   [ 2 drugs ]	1 gene   52 pathways	300 patients Age distribution💬 281. Klippel-Trenaunay-Weber syndrome × Age Num 0-9 2 10-19 15 20-29 69 30-39 52 40-49 50 50-59 61 60-69 34 70-74 9 75- 8
311	Congenital tricuspid stenosis [Card] 💬 "Congenital tricuspid valve stenosis" 311. Congenital tricuspid stenosis × [Card] Cardiovascular diseases	-	-	-	7 patients Age distribution💬 311. Congenital tricuspid stenosis × Age Num 0-9 1 10-19 - 20-29 6 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
312	Congenital mitral stenosis [Card] 💬 "Congenital mitral valve stenosis" 312. Congenital mitral stenosis × [Card] Cardiovascular diseases	-	-	-	24 patients Age distribution💬 312. Congenital mitral stenosis × Age Num 0-9 - 10-19 - 20-29 20 30-39 1 40-49 2 50-59 1 60-69 - 70-74 - 75- -
313	Congenital pulmonary vein stenosis [Card] 💬 "Congenital pulmonary venous obstruction", "Congenital pulmonary venous stenosis" 313. Congenital pulmonary vein stenosis × [Card] Cardiovascular diseases	-	-	-	3 patients Age distribution💬 313. Congenital pulmonary vein stenosis × Age Num 0-9 - 10-19 - 20-29 3 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
314	Vascular sling [Card] 💬 314. Vascular sling × [Card] Cardiovascular diseases	-	-	-	2 patients Age distribution💬 314. Vascular sling × Age Num 0-9 - 10-19 - 20-29 2 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -