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)
90	Retinitis pigmentosa [Eye] 💬 "Rod dystrophy", "Cone-rod dystrophy", "Rod-Cone Dystrophy" 90. Retinitis pigmentosa × [Eye] Eye diseases	203 trials    | 83 / 105 / 52 / 0 💬 90. Retinitis pigmentosa × Some trials have no Phase data.	267 drugs   [ 49 drugs ]	55 genes   162 pathways	19,991 patients Age distribution💬 90. Retinitis pigmentosa × Age Num 0-9 10 10-19 64 20-29 239 30-39 584 40-49 1,416 50-59 2,732 60-69 3,790 70-74 2,845 75- 8,311
134	Septo-optic dysplasia [Eye] 💬 "De Morsier syndrome" 134. Septo-optic dysplasia × [Eye] Eye diseases	3 trials    | 0 / 0 / 1 / 0 💬 134. Septo-optic dysplasia × Some trials have no Phase data.	3 drugs   [ 1 drug ]	1 gene   3 pathways	16 patients Age distribution💬 134. Septo-optic dysplasia × Age Num 0-9 1 10-19 1 20-29 11 30-39 2 40-49 - 50-59 1 60-69 - 70-74 - 75- -
164	Oculocutaneous albinism [Eye] 💬 "Hermansky-Pudlak syndrome", "HPS", "Chediak-Higashi syndrome", "Chédiak-Higashi syndrome", "CHS", "Griscelli syndrome" 164. Oculocutaneous albinism × [Eye] Eye diseases	17 trials    | 2 / 7 / 1 / 0 💬 164. Oculocutaneous albinism × Some trials have no Phase data.	57 drugs   [ 32 drugs ]	32 genes   139 pathways	32 patients Age distribution💬 164. Oculocutaneous albinism × Age Num 0-9 1 10-19 - 20-29 13 30-39 3 40-49 6 50-59 6 60-69 2 70-74 - 75- 1
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" 301. Macular dystrophy × [Eye] Eye diseases	69 trials    | 22 / 34 / 14 / 0 💬 301. Macular dystrophy × Some trials have no Phase data.	66 drugs   [ 15 drugs ]	10 genes   80 pathways	262 patients Age distribution💬 301. Macular dystrophy × Age Num 0-9 2 10-19 6 20-29 12 30-39 19 40-49 39 50-59 60 60-69 58 70-74 29 75- 37
302	Leber hereditary optic neuropathy [Eye] 💬 "LHON", "Leber hereditary optic atrophy", "Leber disease" 302. Leber hereditary optic neuropathy × [Eye] Eye diseases	47 trials    | 6 / 11 / 19 / 10 💬 302. Leber hereditary optic neuropathy × Some trials have no Phase data.	36 drugs   [ 8 drugs ]	5 genes   33 pathways	134 patients Age distribution💬 302. Leber hereditary optic neuropathy × Age Num 0-9 1 10-19 10 20-29 16 30-39 9 40-49 26 50-59 28 60-69 19 70-74 12 75- 13
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
328	Anterior segment dysgenesis [Eye] 💬 "ASD" 328. Anterior segment dysgenesis × [Eye] Eye diseases	-	-	-	21 patients Age distribution💬 328. Anterior segment dysgenesis × Age Num 0-9 10 10-19 2 20-29 4 30-39 - 40-49 3 50-59 1 60-69 - 70-74 1 75- -
329	Aniridia [Eye] 💬 329. Aniridia × [Eye] Eye diseases	5 trials    | 0 / 2 / 0 / 0 💬 329. Aniridia × Some trials have no Phase data.	6 drugs   [ 2 drugs ]	-	157 patients Age distribution💬 329. Aniridia × Age Num 0-9 23 10-19 19 20-29 21 30-39 21 40-49 25 50-59 30 60-69 10 70-74 3 75- 5
332	Gelatinous drop-like corneal dystrophy [Eye] 💬 332. Gelatinous drop-like corneal dystrophy × [Eye] Eye diseases	-	-	-	9 patients Age distribution💬 332. Gelatinous drop-like corneal dystrophy × Age Num 0-9 - 10-19 - 20-29 2 30-39 2 40-49 - 50-59 4 60-69 - 70-74 1 75- -