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
Disease group: Eye diseases| ID | Disease name [Group] | Clinical trial Phase 1 / 2 / 3 / 4 | Drug [ DrugBank ] | Target gene Target pathway | Domestic patients (1) MHLW, (2) Med expenses recipients (FY2021) |
|---|---|---|---|---|---|
| 90 | Retinitis pigmentosa [Eye] 💬 "Rod dystrophy", "Cone-rod dystrophy", "Rod-Cone Dystrophy" | 147 147 trials 99 / 76 / 50 / 9 💬 | 176 176 drugs [ 43 43 drugs ] | 49 49 genes 110 pathways | 22223 (1) 27,158 patients (2) 22,223 patients Age distribution  💬 |
| 134 | Septo-optic dysplasia [Eye] 💬 "De Morsier syndrome" | 1 1 trial 0 / 0 / 0 / 1 💬 | 1 1 drug [ 0 - ] | 0 - | 13 (1) About 500 patients (2) 13 patients Age distribution  💬 |
| 164 | Oculocutaneous albinism [Eye] 💬 "Hermansky-Pudlak syndrome", "Chediak-Higashi syndrome", "Chédiak-Higashi syndrome", "Griscelli syndrome", "Non-syndromic oculocutaneous albinism" | 15 15 trials 3 / 9 / 1 / 0 💬 | 54 54 drugs [ 34 34 drugs ] | 35 35 genes 141 pathways | 28 (1) About 5,000 patients (2,800~11,200 patients) (2) 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 46 trials 21 / 28 / 8 / 1 💬 | 42 42 drugs [ 11 11 drugs ] | 9 9 genes 67 pathways | 217 (1) 1,000 patients (2) 217 patients Age distribution  💬 |
| 302 | Leber hereditary optic neuropathy [Eye] 💬 | 23 23 trials 29 / 12 / 15 / 6 💬 | 15 15 drugs [ 5 5 drugs ] | 5 5 genes 33 pathways | 126 (1) Estimated number of new occurrences per year: 117 patients (2) 126 patients Age distribution  💬 |
| 303 | Usher syndrome [Eye] 💬 [Ear] 💬 | 10 10 trials 6 / 10 / 2 / 0 💬 | 11 11 drugs [ 0 - ] | 0 - | 20 (1) About 8,160 patients (2) 20 patients Age distribution  💬 |
| 328 | Anterior segment dysgenesis [Eye] 💬 "ASD" | 0 - | 0 - | 0 - | 13 (1) About 6,000 patients (2) 13 patients Age distribution  💬 |
| 329 | Aniridia [Eye] 💬 | 3 3 trials 0 / 2 / 0 / 0 💬 | 2 2 drugs [ 2 2 drugs ] | 0 - | 120 (1) About 1,200 patients (2) 120 patients Age distribution  💬 |
| 332 | Gelatinous drop-like corneal dystrophy [Eye] 💬 | 0 - | 0 - | 0 - | 4 (1) About 400 patients (2) 4 patients Age distribution  💬 |