Disease The intractable diseases designated by MHLW, Japan

Diseases : 348 - Clinical trials : 39,610 / Drugs : 18,765 - ( DrugBank : 2,435 ) / Drug target genes : 703 - Drug target pathways : 305

ID	Disease name [Group]	Clinical trial Phase 1 / 2 / 3 / 4	Drug [ DrugBank ]	Target gene Target pathway	Domestic patients Med expenses recipients (FY2023)
90	Retinitis pigmentosa [Eye] 💬 "Rod dystrophy", "Cone-rod dystrophy", "Rod-Cone Dystrophy" 90. Retinitis pigmentosa × [Eye] Eye diseases	186 trials    | 74 / 96 / 50 / 0 💬 90. Retinitis pigmentosa × Some trials have no Phase data.	191 drugs   [ 52 drugs ]	43 genes   87 pathways	20,687 patients Age distribution💬 90. Retinitis pigmentosa × Age Num 0-9 6 10-19 69 20-29 257 30-39 626 40-49 1,470 50-59 2,805 60-69 3,955 70-74 3,222 75- 8,277
134	Septo-optic dysplasia [Eye] 💬 "De Morsier syndrome" 134. Septo-optic dysplasia × [Eye] Eye diseases	2 trials    | 0 / 0 / 1 / 0 💬 134. Septo-optic dysplasia × Some trials have no Phase data.	2 drugs   [ 1 drug ]	1 gene   3 pathways	13 patients Age distribution💬 134. Septo-optic dysplasia × Age Num 0-9 - 10-19 1 20-29 8 30-39 3 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	16 trials    | 2 / 7 / 1 / 0 💬 164. Oculocutaneous albinism × Some trials have no Phase data.	44 drugs   [ 27 drugs ]	30 genes   137 pathways	34 patients Age distribution💬 164. Oculocutaneous albinism × Age Num 0-9 - 10-19 1 20-29 13 30-39 4 40-49 6 50-59 5 60-69 4 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	59 trials    | 18 / 30 / 11 / 0 💬 301. Macular dystrophy × Some trials have no Phase data.	42 drugs   [ 14 drugs ]	9 genes   72 pathways	244 patients Age distribution💬 301. Macular dystrophy × Age Num 0-9 2 10-19 7 20-29 17 30-39 21 40-49 41 50-59 56 60-69 49 70-74 19 75- 32
302	Leber hereditary optic neuropathy [Eye] 💬 "LHON", "Leber disease" 302. Leber hereditary optic neuropathy × [Eye] Eye diseases	41 trials    | 5 / 9 / 16 / 10 💬 302. Leber hereditary optic neuropathy × Some trials have no Phase data.	22 drugs   [ 9 drugs ]	5 genes   33 pathways	134 patients Age distribution💬 302. Leber hereditary optic neuropathy × Age Num 0-9 - 10-19 14 20-29 15 30-39 15 40-49 27 50-59 31 60-69 11 70-74 12 75- 9
303	Usher syndrome [Hear] 💬 [Eye] 💬 303. Usher syndrome × [Hear] Hearing and balance disorders [Eye] Eye diseases	15 trials    | 1 / 2 / 0 / 0 💬 303. Usher syndrome × Some trials have no Phase data.	19 drugs   [ 5 drugs ]	1 gene   1 pathway	30 patients Age distribution💬 303. Usher syndrome × Age Num 0-9 1 10-19 5 20-29 3 30-39 4 40-49 7 50-59 4 60-69 3 70-74 2 75- 1
328	Anterior segment dysgenesis [Eye] 💬 "ASD" 328. Anterior segment dysgenesis × [Eye] Eye diseases	-	-	-	18 patients Age distribution💬 328. Anterior segment dysgenesis × Age Num 0-9 7 10-19 2 20-29 4 30-39 - 40-49 4 50-59 - 60-69 - 70-74 1 75- -
329	Aniridia [Eye] 💬 329. Aniridia × [Eye] Eye diseases	3 trials    | 0 / 2 / 0 / 0 💬 329. Aniridia × Some trials have no Phase data.	2 drugs   [ 2 drugs ]	-	150 patients Age distribution💬 329. Aniridia × Age Num 0-9 20 10-19 23 20-29 16 30-39 28 40-49 22 50-59 24 60-69 9 70-74 3 75- 5
332	Gelatinous drop-like corneal dystrophy [Eye] 💬 332. Gelatinous drop-like corneal dystrophy × [Eye] Eye diseases	-	-	-	8 patients Age distribution💬 332. Gelatinous drop-like corneal dystrophy × Age Num 0-9 - 10-19 2 20-29 1 30-39 2 40-49 - 50-59 2 60-69 1 70-74 - 75- -