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: Bone and joint 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) |
|---|---|---|---|---|---|
| 68 | Ossification of the ligamentum flavum [Bone] 💬 "Ossification of ligamentum flavum", "OLF" | 2 2 trials 0 / 0 / 0 / 0 💬 | 4 4 drugs [ 4 4 drugs ] | 1 1 gene 3 pathways | 6104 (1) 2,360 patients (2) 6,104 patients Age distribution  💬 |
| 69 | Ossification of posterior longitudinal ligament [Bone] 💬 | 2 2 trials 0 / 0 / 0 / 0 💬 | 2 2 drugs [ 3 3 drugs ] | 0 - | 32406 (1) 33,346 patients (2) 32,406 patients Age distribution  💬 |
| 70 | Spinal stenosis [Bone] 💬 "Extensive spinal canal stenosis" | 95 95 trials 14 / 13 / 8 / 29 💬 | 169 169 drugs [ 61 61 drugs ] | 68 68 genes 90 pathways | 5000 (1) 5,944 patients (2) 5,000 patients Age distribution  💬 |
| 71 | Idiopathic osteonecrosis of the femoral head [Bone] 💬 "Idiopathic femoral head necrosis" | 2 2 trials 0 / 1 / 0 / 0 💬 | 3 3 drugs [ 3 3 drugs ] | 3 3 genes 7 pathways | 18817 (1) 15,388 patients (2) 18,817 patients Age distribution  💬 |
| 172 | Hypophosphatasia [Bone] 💬 | 34 34 trials 13 / 20 / 4 / 5 💬 | 17 17 drugs [ 4 4 drugs ] | 3 3 genes 6 pathways | 26 (1) About 100~200 patients (2) 26 patients Age distribution  💬 |
| 238 | Vitamin D-resistant rickets [Bone] 💬 "VDRR", "Vitamin D-resistant osteomalacia", "VDRO", "FGF23-related hypophosphatemic disease", "FGF23-related hypophosphatemia", "Hypophosphatemic rickets/osteomalacia", "Hypophosphatemic rickets", "Hypophosphatemic osteomalacia", "Acquired vitamin D-resistant osteomalacia", "Acquired VDRO", "Tumor-induced osteomalacia", "TIO" | 28 28 trials 5 / 5 / 8 / 4 💬 | 20 20 drugs [ 9 9 drugs ] | 3 3 genes 16 pathways | 396 (1) 117 cases per year in Japan (95％ CI 75-160) estimated by the national survey of the MHLW research group of abnormalities in hormonal signaling mechanisms (2) 396 patients Age distribution  💬 |
| 270 | Chronic recurrent multifocal osteomyelitis [Bone] 💬 | 1 1 trial 0 / 0 / 0 / 0 💬 | 10 10 drugs [ 9 9 drugs ] | 6 6 genes 73 pathways | 102 (1) Less than 100 patients (2) 102 patients Age distribution  💬 |
| 271 | Ankylosing spondylitis [Bone] 💬 "Spondylarthritis ankylopoietica" | 574 574 trials 236 / 145 / 234 / 113 💬 | 359 359 drugs [ 68 68 drugs ] | 41 41 genes 146 pathways | 4552 (1) About 4,500 patients (2) 4,552 patients Age distribution  💬 |
| 272 | Fibrodysplasia ossificans progressiva [Bone] 💬 "FOP" | 39 39 trials 17 / 26 / 15 / 3 💬 | 38 38 drugs [ 7 7 drugs ] | 27 27 genes 95 pathways | 25 (1) Less than 100 patients (2) 25 patients Age distribution  💬 |
| 273 | Congenital scoliosis with rib anomaly [Bone] 💬 "Congenital scoliosis" | 0 - | 0 - | 0 - | 21 (1) Less than about 2,000 patients (Children under 11) (2) 21 patients Age distribution  💬 |
| 274 | Osteogenesis Imperfecta [Bone] 💬 | 91 91 trials 24 / 23 / 32 / 11 💬 | 101 101 drugs [ 20 20 drugs ] | 11 11 genes 48 pathways | 121 (1) About 6,000 patients (2) 121 patients Age distribution  💬 |
| 275 | Thanatophoric dysplasia [Bone] 💬 | 0 - | 0 - | 0 - | 5 (1) Less than 100 patients (2) 5 patients Age distribution  💬 |
| 276 | Achondroplasia [Bone] 💬 | 51 51 trials 27 / 39 / 13 / 6 💬 | 34 34 drugs [ 6 6 drugs ] | 4 4 genes 26 pathways | 88 (1) 6,000 patients nationwide (estimated by frequency of occurrence) (2) 88 patients Age distribution  💬 |