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 (FY2022)
90	Retinitis pigmentosa [Eye] 💬 "Rod dystrophy", "Cone-rod dystrophy", "Rod-Cone Dystrophy"	147 trials    | 99 / 76 / 50 / 9 💬	176 drugs   [ 43 drugs ]	49 genes   110 pathways	21,263 patients Age distribution💬
134	Septo-optic dysplasia [Eye] 💬 "De Morsier syndrome"	1 trial    | 0 / 0 / 0 / 1 💬	1 drug   [ - ]	-	14 patients Age distribution💬
164	Oculocutaneous albinism [Eye] 💬 "Hermansky-Pudlak syndrome", "Chediak-Higashi syndrome", "Chédiak-Higashi syndrome", "Griscelli syndrome", "Non-syndromic oculocutaneous albinism"	15 trials    | 3 / 9 / 1 / 0 💬	54 drugs   [ 34 drugs ]	35 genes   141 pathways	28 patients Age distribution💬
301	Macular dystrophy [Eye] 💬 "Vitelliform macular dystrophy", "Best vitelliform macular dystrophy", "Best disease", "Stargardt disease", "Occult macular dystrophy", "Cone dystrophy", "Cone rod dystrophy", "X-linked juvenile retinoschisis", "Central areolar choroidal dystrophy"	46 trials    | 21 / 28 / 8 / 1 💬	42 drugs   [ 11 drugs ]	9 genes   67 pathways	217 patients Age distribution💬
302	Leber hereditary optic neuropathy [Eye] 💬	23 trials    | 29 / 12 / 15 / 6 💬	15 drugs   [ 5 drugs ]	5 genes   33 pathways	134 patients Age distribution💬
303	Usher syndrome [Hear] 💬 [Eye] 💬	10 trials    | 6 / 10 / 2 / 0 💬	11 drugs   [ - ]	-	26 patients Age distribution💬
328	Anterior segment dysgenesis [Eye] 💬 "ASD"	-	-	-	17 patients Age distribution💬
329	Aniridia [Eye] 💬	3 trials    | 0 / 2 / 0 / 0 💬	2 drugs   [ 2 drugs ]	-	138 patients Age distribution💬
332	Gelatinous drop-like corneal dystrophy [Eye] 💬	-	-	-	3 patients Age distribution💬