Disease The intractable diseases designated by MHLW, Japan

Diseases : 348 - Clinical trials : 43,690 / Drugs : 27,527 - ( DrugBank : 2,441 ) / Drug target genes : 714 - Drug target pathways : 315

ID	Disease name [Group]	Clinical trial Phase 1 / 2 / 3 / 4	Drug [ DrugBank ]	Target gene Target pathway	Domestic patients Med expenses recipients, FY2024 (corrected)
68	Ossification of the ligamentum flavum [Bone] 💬 "Ossification of ligamentum flavum", "Ossified ligamentum flavum", "OLF" 68. Ossification of the ligamentum flavum × [Bone] Bone and joint diseases	2 trials    | 0 / 0 / 0 / 0 💬 68. Ossification of the ligamentum flavum × Some trials have no Phase data.	4 drugs   [ 4 drugs ]	1 gene   4 pathways	6,692 patients Age distribution💬 68. Ossification of the ligamentum flavum × Age Num 0-9 - 10-19 - 20-29 17 30-39 90 40-49 360 50-59 955 60-69 1,319 70-74 979 75- 2,972
69	Ossification of posterior longitudinal ligament [Bone] 💬 "Ossification of the posterior longitudinal ligament of spine" 69. Ossification of posterior longitudinal ligament × [Bone] Bone and joint diseases	3 trials    | 0 / 0 / 0 / 0 💬 69. Ossification of posterior longitudinal ligament × Some trials have no Phase data.	1 drug   [ 1 drug ]	-	32,084 patients Age distribution💬 69. Ossification of posterior longitudinal ligament × Age Num 0-9 - 10-19 - 20-29 18 30-39 296 40-49 1,703 50-59 4,974 60-69 6,909 70-74 4,859 75- 13,325
70	Spinal stenosis [Bone] 💬 "Extensive spinal canal stenosis" 70. Spinal stenosis × [Bone] Bone and joint diseases	146 trials    | 9 / 15 / 9 / 40 💬 70. Spinal stenosis × Some trials have no Phase data.	244 drugs   [ 71 drugs ]	96 genes   110 pathways	4,715 patients Age distribution💬 70. Spinal stenosis × Age Num 0-9 - 10-19 1 20-29 3 30-39 25 40-49 99 50-59 352 60-69 838 70-74 776 75- 2,621
71	Idiopathic osteonecrosis of the femoral head [Bone] 💬 "Idiopathic femoral head necrosis", "Osteonecrosis of the femoral head" 71. Idiopathic osteonecrosis of the femoral head × [Bone] Bone and joint diseases	45 trials    | 5 / 7 / 5 / 2 💬 71. Idiopathic osteonecrosis of the femoral head × Some trials have no Phase data.	49 drugs   [ 23 drugs ]	15 genes   40 pathways	19,809 patients Age distribution💬 71. Idiopathic osteonecrosis of the femoral head × Age Num 0-9 - 10-19 17 20-29 298 30-39 1,034 40-49 2,803 50-59 5,005 60-69 4,805 70-74 2,251 75- 3,596
172	Hypophosphatasia [Bone] 💬 172. Hypophosphatasia × [Bone] Bone and joint diseases	45 trials    | 5 / 22 / 6 / 4 💬 172. Hypophosphatasia × Some trials have no Phase data.	38 drugs   [ 8 drugs ]	6 genes   18 pathways	71 patients Age distribution💬 172. Hypophosphatasia × Age Num 0-9 1 10-19 3 20-29 11 30-39 9 40-49 20 50-59 13 60-69 6 70-74 1 75- 7
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   [ 8 drugs ]	6 genes   71 pathways	140 patients Age distribution💬 270. Chronic recurrent multifocal osteomyelitis × Age Num 0-9 - 10-19 5 20-29 26 30-39 14 40-49 15 50-59 27 60-69 32 70-74 14 75- 7
271	Ankylosing spondylitis [Bone] 💬 "Spondylarthritis ankylopoietica" 271. Ankylosing spondylitis × [Bone] Bone and joint diseases	631 trials    | 15 / 106 / 213 / 78 💬 271. Ankylosing spondylitis × Some trials have no Phase data.	405 drugs   [ 73 drugs ]	38 genes   144 pathways	5,730 patients Age distribution💬 271. Ankylosing spondylitis × Age Num 0-9 - 10-19 27 20-29 392 30-39 677 40-49 1,043 50-59 1,417 60-69 1,112 70-74 491 75- 571
272	Fibrodysplasia ossificans progressiva [Bone] 💬 "FOP" 272. Fibrodysplasia ossificans progressiva × [Bone] Bone and joint diseases	55 trials    | 2 / 32 / 22 / 0 💬 272. Fibrodysplasia ossificans progressiva × Some trials have no Phase data.	51 drugs   [ 9 drugs ]	28 genes   106 pathways	20 patients Age distribution💬 272. Fibrodysplasia ossificans progressiva × Age Num 0-9 - 10-19 2 20-29 8 30-39 3 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.	-	-	22 patients Age distribution💬 273. Congenital scoliosis with rib anomaly × Age Num 0-9 3 10-19 6 20-29 6 30-39 1 40-49 3 50-59 1 60-69 1 70-74 1 75- -
274	Osteogenesis Imperfecta [Bone] 💬 274. Osteogenesis Imperfecta × [Bone] Bone and joint diseases	108 trials    | 17 / 29 / 40 / 10 💬 274. Osteogenesis Imperfecta × Some trials have no Phase data.	113 drugs   [ 18 drugs ]	9 genes   51 pathways	173 patients Age distribution💬 274. Osteogenesis Imperfecta × Age Num 0-9 1 10-19 3 20-29 74 30-39 20 40-49 25 50-59 23 60-69 14 70-74 7 75- 6
275	Thanatophoric dysplasia [Bone] 💬 275. Thanatophoric dysplasia × [Bone] Bone and joint diseases	-	-	-	5 patients Age distribution💬 275. Thanatophoric dysplasia × Age Num 0-9 - 10-19 1 20-29 3 30-39 1 40-49 - 50-59 - 60-69 - 70-74 - 75- -
276	Achondroplasia [Bone] 💬 276. Achondroplasia × [Bone] Bone and joint diseases	69 trials    | 4 / 50 / 15 / 1 💬 276. Achondroplasia × Some trials have no Phase data.	51 drugs   [ 6 drugs ]	5 genes   31 pathways	113 patients Age distribution💬 276. Achondroplasia × Age Num 0-9 2 10-19 4 20-29 47 30-39 10 40-49 26 50-59 15 60-69 7 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	-	-	-	4 patients Age distribution💬 341. TRPV4 deficiency × Age Num 0-9 - 10-19 - 20-29 3 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- 1