EMA grants marketing authorisation to rare disease therapies

In the months of May and June 2022, the European Medicines Agency (EMA) recommended granting various forms of marketing authorisation in the European Union (EU) for the following rare disease-targeted therapies:

  • First therapy to treat two types of Niemann-Pick disease, a rare genetic metabolic disorder: Xenpozyme (olipudase alfa), a therapy for the treatment of non-central nervous system (CNS) manifestations of Acid Sphingomyelinase Deficiency (ASMD), a rare and progressive genetic disease. Xenpozyme is indicated for use in children and adults of all ages with type A/B or type B ASMD. Historically referred to as Niemann-Pick disease types A (NPD A) and B (NPD B), ASMD is a genetic disorder.

  • First therapy to treat rare genetic nervous system disorder AADC deficiency: Upstaza (eladocagene exuparvovec), a therapy for the treatment of adult and paediatric patients with severe aromatic L-amino acid decarboxylase (AADC) deficiency with a genetically confirmed diagnosis. AADC deficiency is an ultra-rare, inherited genetic disease which typically manifests within the first year of life.

  • First gene therapy to treat severe haemophilia A: Roctavian (valoctocogene roxaparvovec) for the treatment of severe haemophilia A in adults who do not have factor VIII inhibitors (auto-antibodies produced by the immune system which make factor VIII medicines less effective) and no antibodies to adeno-associated virus serotype 5 (AAV5). Patients with haemophilia A cannot produce factor VIII (an essential protein required for blood to clot and stop bleeding); they are more prone to bleeding and have prolonged bleeding, e.g. after injury or surgery. Haemophilia A is a rare debilitating disease affecting approximately 0.7 in 10,000 people in the EU.