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Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive disorder resulting in marked or complete loss of dopamine, impeding normal motor development. Eladocagene exuparvovec, a recombinant adeno-associated virus containing the human cDNA encoding the AADC enzyme, is in clinical development for treatment of AADC deficiency.

Eladocagene exuparvovec was administered via bilateral infusion into the putamen of 28 children with AADC deficiency in 3 clinical trials (AADC-CU/1601 [8 patients, completed], AADC-010 [10 patients, ongoing], and AADC-011 [10 patients at data cutoff of 26 February 2020; ongoing]).

Patients received a total dose of 1.8 × 1011 vg (n=21) or 2.4 × 1011 vg (n=7; AADC-011). Motor milestone achievement was assessed using the Peabody Developmental Motor Scales, 2nd Edition. Improvements in motor function from treated patients in the full …