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)
68	Ossification of the ligamentum flavum [Bone] 💬 "Ossification of ligamentum flavum", "OLF" 68. Ossification of the ligamentum flavum × [Bone] Bone and joint diseases	1 trial    | 0 / 0 / 0 / 0 💬 68. Ossification of the ligamentum flavum × Some trials have no Phase data.	3 drugs   [ 3 drugs ]	1 gene   4 pathways	6,486 patients Age distribution💬 68. Ossification of the ligamentum flavum × Age Num 0-9 - 10-19 - 20-29 15 30-39 99 40-49 377 50-59 866 60-69 1,268 70-74 1,052 75- 2,809
69	Ossification of posterior longitudinal ligament [Bone] 💬 69. Ossification of posterior longitudinal ligament × [Bone] Bone and joint diseases	2 trials    | 0 / 0 / 0 / 0 💬 69. Ossification of posterior longitudinal ligament × Some trials have no Phase data.	1 drug   [ 1 drug ]	-	31,733 patients Age distribution💬 69. Ossification of posterior longitudinal ligament × Age Num 0-9 - 10-19 - 20-29 25 30-39 286 40-49 1,750 50-59 4,806 60-69 6,732 70-74 5,138 75- 12,996
70	Spinal stenosis [Bone] 💬 "Extensive spinal canal stenosis" 70. Spinal stenosis × [Bone] Bone and joint diseases	127 trials    | 8 / 15 / 9 / 38 💬 70. Spinal stenosis × Some trials have no Phase data.	178 drugs   [ 67 drugs ]	87 genes   99 pathways	4,805 patients Age distribution💬 70. Spinal stenosis × Age Num 0-9 - 10-19 1 20-29 5 30-39 22 40-49 103 50-59 346 60-69 821 70-74 846 75- 2,661
71	Idiopathic osteonecrosis of the femoral head [Bone] 💬 "Idiopathic femoral head necrosis" 71. Idiopathic osteonecrosis of the femoral head × [Bone] Bone and joint diseases	2 trials    | 0 / 1 / 0 / 0 💬 71. Idiopathic osteonecrosis of the femoral head × Some trials have no Phase data.	3 drugs   [ 3 drugs ]	3 genes   7 pathways	19,677 patients Age distribution💬 71. Idiopathic osteonecrosis of the femoral head × Age Num 0-9 - 10-19 23 20-29 295 30-39 1,070 40-49 3,008 50-59 4,943 60-69 4,702 70-74 2,289 75- 3,347
172	Hypophosphatasia [Bone] 💬 172. Hypophosphatasia × [Bone] Bone and joint diseases	44 trials    | 4 / 21 / 6 / 4 💬 172. Hypophosphatasia × Some trials have no Phase data.	29 drugs   [ 8 drugs ]	7 genes   17 pathways	48 patients Age distribution💬 172. Hypophosphatasia × Age Num 0-9 1 10-19 2 20-29 7 30-39 7 40-49 15 50-59 8 60-69 3 70-74 2 75- 3
270	Chronic recurrent multifocal osteomyelitis [Bone] 💬 270. Chronic recurrent multifocal osteomyelitis × [Bone] Bone and joint diseases	1 trial    | 0 / 0 / 0 / 0 💬 270. Chronic recurrent multifocal osteomyelitis × Some trials have no Phase data.	11 drugs   [ 9 drugs ]	6 genes   71 pathways	130 patients Age distribution💬 270. Chronic recurrent multifocal osteomyelitis × Age Num 0-9 - 10-19 3 20-29 23 30-39 16 40-49 17 50-59 25 60-69 29 70-74 14 75- 3
271	Ankylosing spondylitis [Bone] 💬 "Spondylarthritis ankylopoietica" 271. Ankylosing spondylitis × [Bone] Bone and joint diseases	603 trials    | 12 / 102 / 209 / 73 💬 271. Ankylosing spondylitis × Some trials have no Phase data.	302 drugs   [ 69 drugs ]	40 genes   146 pathways	5,353 patients Age distribution💬 271. Ankylosing spondylitis × Age Num 0-9 - 10-19 43 20-29 344 30-39 649 40-49 1,040 50-59 1,314 60-69 1,025 70-74 458 75- 480
272	Fibrodysplasia ossificans progressiva [Bone] 💬 "FOP" 272. Fibrodysplasia ossificans progressiva × [Bone] Bone and joint diseases	52 trials    | 2 / 32 / 20 / 0 💬 272. Fibrodysplasia ossificans progressiva × Some trials have no Phase data.	42 drugs   [ 10 drugs ]	28 genes   102 pathways	20 patients Age distribution💬 272. Fibrodysplasia ossificans progressiva × Age Num 0-9 - 10-19 3 20-29 5 30-39 5 40-49 - 50-59 5 60-69 2 70-74 - 75- -
273	Congenital scoliosis with rib anomaly [Bone] 💬 "Congenital scoliosis" 273. Congenital scoliosis with rib anomaly × [Bone] Bone and joint diseases	1 trial    | 0 / 0 / 0 / 1 💬 273. Congenital scoliosis with rib anomaly × Some trials have no Phase data.	1 drug   [ 1 drug ]	1 gene   11 pathways	24 patients Age distribution💬 273. Congenital scoliosis with rib anomaly × Age Num 0-9 3 10-19 8 20-29 6 30-39 2 40-49 2 50-59 1 60-69 2 70-74 - 75- -
274	Osteogenesis Imperfecta [Bone] 💬 274. Osteogenesis Imperfecta × [Bone] Bone and joint diseases	102 trials    | 17 / 27 / 38 / 10 💬 274. Osteogenesis Imperfecta × Some trials have no Phase data.	82 drugs   [ 22 drugs ]	15 genes   79 pathways	156 patients Age distribution💬 274. Osteogenesis Imperfecta × Age Num 0-9 1 10-19 - 20-29 67 30-39 13 40-49 24 50-59 24 60-69 15 70-74 6 75- 6
275	Thanatophoric dysplasia [Bone] 💬 275. Thanatophoric dysplasia × [Bone] Bone and joint diseases	-	-	-	7 patients Age distribution💬 275. Thanatophoric dysplasia × Age Num 0-9 3 10-19 1 20-29 2 30-39 1 40-49 - 50-59 - 60-69 - 70-74 - 75- -
276	Achondroplasia [Bone] 💬 276. Achondroplasia × [Bone] Bone and joint diseases	65 trials    | 3 / 47 / 13 / 1 💬 276. Achondroplasia × Some trials have no Phase data.	37 drugs   [ 6 drugs ]	5 genes   29 pathways	101 patients Age distribution💬 276. Achondroplasia × Age Num 0-9 2 10-19 2 20-29 41 30-39 12 40-49 24 50-59 13 60-69 5 70-74 1 75- 1
341	TRPV4 deficiency [Bone] 💬 "Metatropic dysplasia", "Spondyloepimetaphyseal dysplasia, Maroteaux type", "Pseudo-Morquio syndrome type 2", "Spondylometaphyseal dysplasia, Kozlowski type", "Brachyolmia, autosomal dominant type", "Familial digital arthropathy with brachydactyly", "Familial digital arthropathy-brachydactyly" 341. TRPV4 deficiency × [Bone] Bone and joint diseases	-	-	-	-