Eladocagene exuparvovec

Eladocagene exuparvovec is a recombinant adeno-associated virus-2 (AAV2) vector that expresses human aromatic L-amino acid decarboxylase (AADC). It is used to treat patients with AADC deficiency, an autosomal recessive condition caused by mutations in the dopa decarboxylase (DDC) gene. The DDC gene encodes the AADC enzyme, which converts L-3,4-dihydroxyphenylalanine (L-DOPA) to dopamine and 5-hydroxytryptophan to serotonin. However, the mutations present in patients with AADC deficiency lead to the reduction or absence of AADC enzyme activity, causing a depletion in neurotransmitter levels and a failure to achieve developmental milestones.

Eladocagene exuparvovec is administered to the putamen of patients with AADC deficiency (direct brain infusion), where it drives the production of the AADC enzyme and increases dopamine levels. Consequently, the use of eladocagene exuparvovec improves the development of motor function in treated patients with AADC deficiency.