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)
181	Crouzon syndrome [Hear] 💬 181. Crouzon syndrome × [Hear] Hearing and balance disorders	1 trial    | 0 / 0 / 0 / 0 💬 181. Crouzon syndrome × Some trials have no Phase data.	1 drug   [ - ]	-	22 patients Age distribution💬 181. Crouzon syndrome × Age Num 0-9 - 10-19 - 20-29 14 30-39 3 40-49 1 50-59 - 60-69 4 70-74 - 75- -
182	Apert syndrome [Hear] 💬 182. Apert syndrome × [Hear] Hearing and balance disorders	1 trial    | 0 / 0 / 0 / 0 💬 182. Apert syndrome × Some trials have no Phase data.	1 drug   [ - ]	-	10 patients Age distribution💬 182. Apert syndrome × Age Num 0-9 1 10-19 - 20-29 7 30-39 2 40-49 - 50-59 - 60-69 - 70-74 - 75- -
183	Pfeiffer syndrome [Hear] 💬 183. Pfeiffer syndrome × [Hear] Hearing and balance disorders	1 trial    | 0 / 0 / 0 / 0 💬 183. Pfeiffer syndrome × Some trials have no Phase data.	1 drug   [ - ]	-	10 patients Age distribution💬 183. Pfeiffer syndrome × Age Num 0-9 1 10-19 1 20-29 7 30-39 1 40-49 - 50-59 - 60-69 - 70-74 - 75- -
184	Antley-Bixler syndrome [Hear] 💬 184. Antley-Bixler syndrome × [Hear] Hearing and balance disorders	-	-	-	3 patients Age distribution💬 184. Antley-Bixler syndrome × Age Num 0-9 - 10-19 - 20-29 2 30-39 1 40-49 - 50-59 - 60-69 - 70-74 - 75- -
190	Branchio-oto-renal syndrome [Hear] 💬 "BOR syndrome" 190. Branchio-oto-renal syndrome × [Hear] Hearing and balance disorders	-	-	-	7 patients Age distribution💬 190. Branchio-oto-renal syndrome × Age Num 0-9 - 10-19 2 20-29 2 30-39 2 40-49 - 50-59 1 60-69 - 70-74 - 75- -
303	Usher syndrome [Hear] 💬 [Eye] 💬 303. Usher syndrome × [Hear] Hearing and balance disorders [Eye] Eye diseases	16 trials    | 1 / 2 / 0 / 0 💬 303. Usher syndrome × Some trials have no Phase data.	27 drugs   [ 6 drugs ]	1 gene   1 pathway	30 patients Age distribution💬 303. Usher syndrome × Age Num 0-9 1 10-19 7 20-29 3 30-39 3 40-49 7 50-59 3 60-69 3 70-74 2 75- 1
304	Juvenile-onset bilateral sensorineural hearing loss [Hear] 💬 "Bilateral sudden sensorineural hearing loss" 304. Juvenile-onset bilateral sensorineural hearing loss × [Hear] Hearing and balance disorders	-	-	-	70 patients Age distribution💬 304. Juvenile-onset bilateral sensorineural hearing loss × Age Num 0-9 1 10-19 4 20-29 4 30-39 9 40-49 14 50-59 26 60-69 10 70-74 - 75- 2
305	Delayed endolymphatic hydrops [Hear] 💬 305. Delayed endolymphatic hydrops × [Hear] Hearing and balance disorders	2 trials    | 0 / 0 / 0 / 0 💬 305. Delayed endolymphatic hydrops × Some trials have no Phase data.	2 drugs   [ 2 drugs ]	-	28 patients Age distribution💬 305. Delayed endolymphatic hydrops × Age Num 0-9 - 10-19 - 20-29 1 30-39 2 40-49 6 50-59 9 60-69 7 70-74 2 75- 1
306	Eosinophilic sinusitis [Imm] 💬 [Hear] 💬 306. Eosinophilic sinusitis × [Imm] Immune diseases [Hear] Hearing and balance disorders	2 trials    | 0 / 0 / 0 / 1 💬 306. Eosinophilic sinusitis × Some trials have no Phase data.	4 drugs   [ 4 drugs ]	3 genes   19 pathways	34,535 patients Age distribution💬 306. Eosinophilic sinusitis × Age Num 0-9 - 10-19 31 20-29 660 30-39 2,673 40-49 6,765 50-59 10,555 60-69 8,318 70-74 2,810 75- 2,723
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