Eladocagene exuparvovec is in clinical development for the treatment of patients with deficiency of a protein called aromatic L-amino acid decarboxylase (AADC). AADC-deficiency is a very rare inherited disease which affects the way signals are passed between certain cells in the nervous system. AADC-deficiency is caused by changes or mutations in the dopa decarboxylase (DDC) gene, which provides instructions to make the AADC-enzyme. In patients with AADC-deficiency, the production of the AADC-enzyme is reduced, leading to lower levels of dopamine and serotonin (chemicals that send information between cells in the nervous system). The condition appears in the first year of life and prevents sufferers from ever talking, walking and sitting up.
Eladocagene exuparvovec is a type of gene replacement therapy which involves the transfer of the gene encoding the production of the enzyme needed by the brain for the formation of dopamine and serotonin. The gene therapy is injected via a surgical procedure into an area of the brain called the putamen. By increasing production of the AADC-enzyme, this therapy increases dopamine production in the target area of the brain and improves motor and cognitive symptoms in patients. If licensed, eladocagene exuparvovec will provide the first medicinal treatment option for adult and child patients with AADC-deficiency, a disease of very high unmet clinical need.