Intraputaminal Gene Delivery in Two Patients with Aromatic L-Amino Acid Decarboxylase Deficiency.

ABSTRACT:

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-[^18</

SUBMITTER: Francois-Heude MC 

PROVIDER: S-EPMC10187009 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature