Eladocagene exuparvovec

Eladocagene exuparvovec is a recombinant adeno-associated virus-2 (AAV2)-based gene therapy that expresses human aromatic L-amino acid decarboxylase (AADC), and it is used to treat AADC deficiency, a fatal and rare genetic disorder that causes severe disability in pediatric patients. Patients with AADC have mutations in the dopa decarboxylase (DDC) gene that encodes the AADC enzyme. By promoting the expression of AADC, eladocagene exuparvovec leads to the development of motor function in patients with AADC deficiency. Eladocagene exuparvovec is infused directly into the brain (putamen) by bilateral intraputaminal infusion in one surgical session. Eladocagene exuparvovec received EMA approval in July 2022. Before the approval of this gene therapy, the treatment options for patients with AADC deficiency were limited to attempts to increase monoamine neurotransmitter production, decrease neurotransmitter catabolism via monoamine oxidase (MAO) inhibition and address symptoms.

Eladocagene exuparvovec is a recombinant adeno-associated virus-2 (AAV2)-based gene therapy that expresses human aromatic L-amino acid decarboxylase (AADC), and it is used to treat AADC deficiency, a fatal and rare genetic disorder that causes severe disability in pediatric patients. Patients with AADC have mutations in the dopa decarboxylase (DDC) gene that encodes the AADC enzyme. By promoting the expression of AADC, eladocagene exuparvovec leads to the development of motor function in patients with AADC deficiency. Eladocagene exuparvovec is infused directly into the brain (putamen) by bilateral intraputaminal infusion in one surgical session. Eladocagene exuparvovec received EMA approval in July 2022. Before the approval of this gene therapy, the treatment options for patients with AADC deficiency were limited to attempts to increase monoamine neurotransmitter production, decrease neurotransmitter catabolism via monoamine oxidase (MAO) inhibition and address symptoms.

Eladocagene exuparvovec is indicated for the treatment of patients aged 18 months and older with a clinical, molecular, and genetically confirmed diagnosis of aromatic L-amino acid decarboxylase (AADC) deficiency with a severe phenotype.

• Aromatic L-amino Acid Decarboxylase (AADC) Deficiency