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)
34	Neurofibromatosis [Skin] 💬 "Neurofibromatosis type 1", "NF1", "Recklinghausen disease", "Neurofibromatosis type 2", "NF2" 34. Neurofibromatosis × [Skin] Skin and connective tissue diseases	179 trials    | 51 / 106 / 14 / 7 💬 34. Neurofibromatosis × Some trials have no Phase data.	259 drugs   [ 84 drugs ]	90 genes   211 pathways	4,165 patients Age distribution💬 34. Neurofibromatosis × Age Num 0-9 5 10-19 109 20-29 496 30-39 584 40-49 815 50-59 903 60-69 672 70-74 270 75- 311
35	Pemphigus [Skin] 💬 35. Pemphigus × [Skin] Skin and connective tissue diseases	130 trials    | 10 / 35 / 52 / 6 💬 35. Pemphigus × Some trials have no Phase data.	159 drugs   [ 46 drugs ]	28 genes   174 pathways	3,133 patients Age distribution💬 35. Pemphigus × Age Num 0-9 - 10-19 2 20-29 27 30-39 104 40-49 323 50-59 721 60-69 764 70-74 421 75- 771
36	Epidermolysis bullosa [Skin] 💬 "Kindler syndrome" 36. Epidermolysis bullosa × [Skin] Skin and connective tissue diseases	197 trials    | 57 / 110 / 56 / 3 💬 36. Epidermolysis bullosa × Some trials have no Phase data.	223 drugs   [ 46 drugs ]	53 genes   136 pathways	293 patients Age distribution💬 36. Epidermolysis bullosa × Age Num 0-9 - 10-19 20 20-29 46 30-39 47 40-49 48 50-59 54 60-69 39 70-74 23 75- 16
37	Generalised pustular psoriasis [Skin] 💬 "GPP", "Pustular psoriasis", "Herpetic impetigo" 37. Generalised pustular psoriasis × [Skin] Skin and connective tissue diseases	95 trials    | 3 / 31 / 44 / 5 💬 37. Generalised pustular psoriasis × Some trials have no Phase data.	62 drugs   [ 21 drugs ]	21 genes   101 pathways	2,340 patients Age distribution💬 37. Generalised pustular psoriasis × Age Num 0-9 - 10-19 6 20-29 62 30-39 149 40-49 320 50-59 554 60-69 503 70-74 266 75- 480
38	Stevens-Johnson syndrome [Skin] 💬 "SJS", "Mucocutaneous ocular syndrome" 38. Stevens-Johnson syndrome × [Skin] Skin and connective tissue diseases	20 trials    | 7 / 11 / 3 / 2 💬 38. Stevens-Johnson syndrome × Some trials have no Phase data.	29 drugs   [ 10 drugs ]	15 genes   100 pathways	190 patients Age distribution💬 38. Stevens-Johnson syndrome × Age Num 0-9 - 10-19 4 20-29 17 30-39 16 40-49 29 50-59 41 60-69 37 70-74 14 75- 32
39	Toxic epidermal necrolysis [Skin] 💬 "Toxic epidermal necrosis", "TEN" 39. Toxic epidermal necrolysis × [Skin] Skin and connective tissue diseases	17 trials    | 3 / 4 / 0 / 1 💬 39. Toxic epidermal necrolysis × Some trials have no Phase data.	22 drugs   [ 10 drugs ]	11 genes   103 pathways	84 patients Age distribution💬 39. Toxic epidermal necrolysis × Age Num 0-9 - 10-19 1 20-29 11 30-39 9 40-49 11 50-59 17 60-69 16 70-74 10 75- 9
159	Xeroderma pigmentosum [Skin] 💬 "XP" 159. Xeroderma pigmentosum × [Skin] Skin and connective tissue diseases	12 trials    | 1 / 9 / 1 / 0 💬 159. Xeroderma pigmentosum × Some trials have no Phase data.	16 drugs   [ 5 drugs ]	7 genes   17 pathways	88 patients Age distribution💬 159. Xeroderma pigmentosum × Age Num 0-9 2 10-19 1 20-29 32 30-39 12 40-49 9 50-59 3 60-69 9 70-74 7 75- 13
160	Congenital ichthyosis [Skin] 💬 "Keratinopathic ichthyosis", "Epidermolytic ichthyosis", "Superficial epidermolytic ichthyosis", "Harlequin ichthyosis", "Autosomal recessive congenital ichthyosis", "Congenital Ichthyosiform Erythroderma", "Foliate ichthyosis", "Ichthyosis syndrome", "Netherton syndrome", "Sjogren-Larsson syndrome", "Sjögren-Larsson syndrome", "Keratitis-ichtyosis-deafness syndrome", "KID syndrome", "Dorfman-Chanarin syndrome", "Neutral lipid storage disease", "NLSD", "Multiple sulfatase deficiency", "Austin disease", "Austin syndrome", "Recessive X-linked ichthyosis", "RXLI", "X-linked recessive ichthyosis", "Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature", "IBID", "Trichothiodystrophy", "Follicular ichthyosis", "Congenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects syndrome", "CHILD syndrome", "Conradi-Hunermann-Happle syndrome", "Conradi-Hünermann-Happle syndrome", "CHHS" 160. Congenital ichthyosis × [Skin] Skin and connective tissue diseases	63 trials    | 17 / 27 / 14 / 2 💬 160. Congenital ichthyosis × Some trials have no Phase data.	93 drugs   [ 22 drugs ]	21 genes   144 pathways	108 patients Age distribution💬 160. Congenital ichthyosis × Age Num 0-9 - 10-19 4 20-29 33 30-39 17 40-49 15 50-59 22 60-69 10 70-74 3 75- 4
161	Familial benign chronic pemphigus [Skin] 💬 "Benign familial pemphigus", "Hailey-Hailey disease" 161. Familial benign chronic pemphigus × [Skin] Skin and connective tissue diseases	6 trials    | 2 / 3 / 0 / 0 💬 161. Familial benign chronic pemphigus × Some trials have no Phase data.	9 drugs   [ 3 drugs ]	2 genes   29 pathways	87 patients Age distribution💬 161. Familial benign chronic pemphigus × Age Num 0-9 - 10-19 - 20-29 1 30-39 5 40-49 15 50-59 28 60-69 22 70-74 3 75- 13
162	Pemphigoid [Skin] 💬 "Bullous pemphigoid", "BP", "Epidermolysis bullosa acquisita", "Acquired epidermolysis bullosa" 162. Pemphigoid × [Skin] Skin and connective tissue diseases	138 trials    | 3 / 43 / 46 / 10 💬 162. Pemphigoid × Some trials have no Phase data.	154 drugs   [ 53 drugs ]	34 genes   144 pathways	4,246 patients Age distribution💬 162. Pemphigoid × Age Num 0-9 - 10-19 2 20-29 11 30-39 26 40-49 133 50-59 427 60-69 763 70-74 675 75- 2,209
163	Idiopathic pure sudomotor failure [Skin] 💬 "Idiopathic acquired systemic anhidrosis", "Acquired idiopathic generalized anhidrosis", "AIGA", "Idiopathic segmental anhidrosis", "Idiopathic pure sudomotor failure", "IPSF", "Sweat gland failure" 163. Idiopathic pure sudomotor failure × [Skin] Skin and connective tissue diseases	-	-	-	673 patients Age distribution💬 163. Idiopathic pure sudomotor failure × Age Num 0-9 1 10-19 49 20-29 169 30-39 144 40-49 141 50-59 111 60-69 41 70-74 5 75- 12
166	Pseudoxanthoma elasticum [Skin] 💬 "PXE" 166. Pseudoxanthoma elasticum × [Skin] Skin and connective tissue diseases	21 trials    | 4 / 14 / 3 / 1 💬 166. Pseudoxanthoma elasticum × Some trials have no Phase data.	30 drugs   [ 6 drugs ]	5 genes   27 pathways	160 patients Age distribution💬 166. Pseudoxanthoma elasticum × Age Num 0-9 - 10-19 - 20-29 2 30-39 3 40-49 8 50-59 30 60-69 60 70-74 29 75- 28