National Taiwan University Hospital, Taipei, Taiwan
What is aromatic L-amino acid decarboxylase (AADC) deficiency
Clinical Manifestations of AADC deficiency
Principle of gene therapy for AADC deficiency
Method of gene delivery
1: Explanation of the stereotactic surgery. Left panel illustrates the
four injections through two burr holes. Right panel indicates the
injection site, the putamen.
The Phase 1/II trial (NCT01395641):
Completed, this trial treated 10 patients. All patients revealed
improved in motor function and decrease in the severity of oculogyric
Figure 2: FDOPA positron emission tomography (PET) study revealed the visualization of bilateral putamens after gene therapy.
The Phase IIb trial (NCT02926066): Ongoing, this trial includes two-dosages in patients younger than 3 years.
Achievements of the clinical trial