Disease The intractable diseases designated by MHLW, Japan
Diseases : 338 - Clinical trials : 33,695 / Drugs : 21,110 - ( DrugBank : 2,155 ) / Drug target genes : 623 - Drug target pathways : 291
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] 💬 | 1 1 trial 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" | 96 96 trials 13 / 13 / 8 / 27 💬 | 203 203 drugs [ 60 60 drugs ] | 66 66 genes 89 pathways | 5000 (1) 5,944 patients (2) 5,000 patients Age distribution  💬 |
| 71 | Idiopathic osteonecrosis of the femoral head [Bone] 💬 "Idiopathic femoral head necrosis" | 3 3 trials 0 / 1 / 0 / 0 💬 | 5 5 drugs [ 4 4 drugs ] | 4 4 genes 11 pathways | 18817 (1) 15,388 patients (2) 18,817 patients Age distribution  💬 |
| 172 | Hypophosphatasia [Bone] 💬 | 34 34 trials 13 / 20 / 4 / 5 💬 | 19 19 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" | 29 29 trials 6 / 6 / 8 / 3 💬 | 25 25 drugs [ 11 11 drugs ] | 4 4 genes 20 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" | 563 563 trials 236 / 141 / 233 / 110 💬 | 372 372 drugs [ 72 72 drugs ] | 41 41 genes 145 pathways | 4552 (1) About 4,500 patients (2) 4,552 patients Age distribution  💬 |
| 272 | Fibrodysplasia ossificans progressiva [Bone] 💬 "FOP" | 40 40 trials 23 / 28 / 14 / 4 💬 | 36 36 drugs [ 6 6 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] 💬 | 87 87 trials 28 / 21 / 29 / 12 💬 | 103 103 drugs [ 20 20 drugs ] | 14 14 genes 76 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] 💬 | 46 46 trials 27 / 35 / 12 / 5 💬 | 29 29 drugs [ 6 6 drugs ] | 5 5 genes 30 pathways | 88 (1) 6,000 patients nationwide (estimated by frequency of occurrence) (2) 88 patients Age distribution  💬 |