Gene therapy in the putamen for curing AADC deficiency and Parkinson's disease

This commentary provides an overview of the putamen as an established target site for gene therapy in treating aromatic l-amino acid decarboxylase (AADC) deficiency and Parkinson’s disease, two debilitating neurological disorders that involve motor dysfunction caused by dopamine deficiencies...

Insightful Moments from PTC Therapeutics

Insightful Moments™ is a community education series of programs and materials created to support patients with rare disease and their families. The programs empower patients and families through different learning styles and communication methods...

Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency

Aromatic L-amino acid decarboxylase deficiency results in decreased neurotransmitter levels and severe motor dysfunction. Twenty-six patients without head control received bilateral intraputaminal infusions of a recombinant adeno-associated virus type 2 vector containing the human aromatic L-amino acid decarboxylase gene (eladocagene exuparvovec) and have completed 1-year evaluations...