Orphan designation: Rimeporide Treatment of Duchenne muscular dystrophy, 26/02/2025 Positive
Orphan designation: hydroxocobalamin acetate Treatment of homocystinuria and/or methylmalonic acidaemia due to genetic defects of intracellular cobalamin processing, 26/02/2025 Positive
Orphan designation: Venetoclax Treatment of mantle cell lymphoma, 12/12/2017 Withdrawn
Orphan designation: adeno-associated virus serotype rh.10 containing the human PKP2 gene Treatment of arrhythmogenic cardiomyopathy caused by pathogenic mutations in the PKP2 gene, 26/02/2025 Positive
Orphan designation: (R)-(3-(2'-cyclopropyl-3-(hydroxymethyl)-[1,1'-biphenyl]-4-yl)pyrrolidin-1-yl)(5-hydroxy-6-methylpyridin-2-yl)methanone Treatment of Olmsted syndrome, 26/02/2025 Positive
Orphan designation: Venetoclax Treatment of diffuse large B-cell lymphoma, 14/10/2016 Withdrawn
Orphan designation: Treatment of X-linked hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine Syndrome), 26/02/2025 Positive
Orphan designation: paltusotine Treatment of acromegaly, 26/02/2025 Positive
Orphan designation: adeno-associated virus vector serotype SNY001 containing the human PAH gene Treatment of hyperphenylalaninaemia, 26/02/2025 Positive
Orphan designation: volixibat potassium Treatment of primary sclerosing cholangitis, 26/02/2025 Positive