23
Orphan Designations
2
FDA Approvals
36
Rare Diseases
0
News Articles
| Disease | Drug(s) | Designation | Approved |
|---|---|---|---|
| Angelman syndrome | Recombinant adeno-associated virus vector containing the active biological substance AAV-GTX-hUBE3Arecombinant adeno-associated virus serotype 9 vector containing the transgene UBE3A encoding for ubiquitin protein ligase E3A/E6-AP | Orphan Designation | - |
| Becker muscular dystrophy | Emflaza | Orphan Designation | - |
| Duchenne muscular dystrophy | Emflaza | Orphan Designation | - |
| Friedreich ataxia | recombinant, adeno-associated virus serotype 5 vector, containing the transgene, which encodes for the human protein, frataxinvatiquinone | Orphan Designation | - |
| Leigh syndrome | vatiquinone | Orphan Designation | - |
| Rett syndrome | vatiquinone | Orphan Designation | - |
| acute myeloid leukemia | (1S)-6-chloro-1,3,4,9-tetrahydro-1-(4-methoxyphenyl)-2H-pyrido[3,4-b]indole-2-carboxylic acid, 4-chlorophenyl ester | Orphan Designation | - |
| adult pleomorphic rhabdomyosarcoma | Kebilidi | Orphan Designation | - |
| amyotrophic lateral sclerosis | 2,3,5-Trimethyl-6-nonyl-2,5-cyclohexadiene-1,4-dione(R)-2-hydroxy-2-methyl-4-(2,4,5-trimethyl-3,6-dioxocyclohexa-1,4-dien-1-yl) butanamide | Orphan Designation | - |
| aniridia | ataluren | Orphan Designation | - |
| aromatic L-amino acid decarboxylase deficiency | Kebilidi | Orphan Designation | - |
| cystic fibrosis | ataluren | Orphan Designation | - |
| cystic fibrosis associated meconium ileus | ataluren | Orphan Designation | - |
| cystic fibrosis-gastritis-megaloblastic anemia syndrome | ataluren | Orphan Designation | - |
| glioma | 5-fluoro-2-(6-fluoro-2-methyl-1H-benzo[d]imidazole-1-yl)-N4-(4-(trifluoromethyl)phenyl)pyrimidine-4,6-diamine | Orphan Designation | - |
| hyperphenylalaninemia due to tetrahydrobiopterin deficiency | Sephience | Orphan Designation | - |
| maternally-inherited Leigh syndrome | alpha-tocotrienol quinone | Orphan Designation | - |
| maternally-inherited diabetes and deafness | alpha-tocotrienol quinone | Orphan Designation | - |
| maternally-inherited mitochondrial dystonia | alpha-tocotrienol quinone | Orphan Designation | - |
| mild hyperphenylalaninemia | Sephience | Orphan Designation | - |
| mitochondrial disease | vatiquinone | Orphan Designation | - |
| mucopolysaccharidosis type 1 | ataluren | Orphan Designation | - |
| muscular dystrophy | ataluren | Orphan Designation | - |
| muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | ataluren | Orphan Designation | - |
| muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | ataluren | Orphan Designation | - |
| pediatric acute-onset neuropsychiatric syndrome | Kebilidi | Orphan Designation | - |
| pediatric hepatocellular carcinoma | Kebilidideflazacort | Orphan Designation | - |
| pediatric ovarian dysgerminoma | Kebilidideflazacort | Orphan Designation | - |
| pediatric ovarian germ cell tumor | Kebilidi | Orphan Designation | - |
| pediatric-onset Graves disease | Kebilidideflazacort | Orphan Designation | - |
| phenylketonuria | Sephience | Orphan Designation | - |
| pontocerebellar hypoplasia | vatiquinone | Orphan Designation | - |
| soft tissue sarcoma | 5-fluoro-2-(6-fluoro-2-methyl-1H-benzo[d]imidazole-1-yl)-N4-(4-(trifluoromethyl)phenyl)pyrimidine-4,6-diamine | Orphan Designation | - |
| spinal muscular atrophy | ataluren | Orphan Designation | - |
| symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers | Emflaza | Orphan Designation | - |
| tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria | Sephience | Orphan Designation | - |