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Updated: Jul 29, 2025
Author Spotlight: Assessing Intrathecal Gene Therapy Efficacy in Juvenile Rats
Published on: March 29, 2024
Intraputaminal Gene Delivery in Two Patients with Aromatic L-Amino Acid Decarboxylase Deficiency
Marie-Céline François-Heude1, Gaetan Poulen2, Emmanuel Flamand Roze3
1CHU Montpellier, Département de Neuropédiatrie Univ Montpellier Montpellier France.
Background:
Aromatic l-amino acid decarboxylase deficiency (AADCD) is a rare, early-onset, dyskinetic encephalopathy mostly reflecting a defective synthesis of brain dopamine and serotonin. Intracerebral gene delivery (GD) provided a significant improvement among AADCD patients (mean age, ≤6 years).
Objective:
We describe the clinical, biological, and imaging evolution of two AADCD patients ages >10 years after GD.
Methods:
Eladocagene exuparvovec, a recombinant adeno-associated virus containing the human complimentary DNA encoding the AADC enzyme, was administered into bilateral putamen by stereotactic surgery.
Results:
Eighteen months after GD, patients showed improvement in motor, cognitive and behavioral function, and in quality of life. Cerebral l-6-[18F] fluoro-3, 4-dihydroxyphenylalanine uptake was increased at 1 month, persisting at 1 year compared to baseline.
Conclusion:
Two patients with a severe form of AADCD had an objective motor and non-motor benefit from eladocagene exuparvovec injection even when treated after the age of 10 years, as in the seminal study.
