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A Phase I/II Clinical Trial for Treatment of Aromatic L-amino Acid Decarboxylase (AADC) Deficiency Using AAV2-hAADC

Information source: National Taiwan University Hospital
ClinicalTrials.gov processed this data on August 23, 2015
Link to the current ClinicalTrials.gov record.

Condition(s) targeted: Aromatic L-amino Acid Decarboxylase (AADC) Deficiency

Intervention: gene therapy (Genetic)

Phase: Phase 1/Phase 2

Status: Enrolling by invitation

Sponsored by: National Taiwan University Hospital

Official(s) and/or principal investigator(s):
Wuh-Liang Hwu, MD, Principal Investigator, Affiliation: Department of Pediatrics and Medical Genetics, National Taiwan University Hospital


This Phase I/II trial is to prove the efficacy and safety of AAV2-hAADC to treat patients with AADC deficiency.

Clinical Details

Official title: A Phase I/II Clinical Trial for Treatment of Aromatic L-amino Acid Decarboxylase (AADC) Deficiency Using AAV2-hAADC

Study design: Endpoint Classification: Safety/Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment

Primary outcome: efficacy of the intervention(s)

Secondary outcome:

Safety of the trial

Other secondary efficacy end points

Exploratory end points

Detailed description: Aromatic L-amino acid decarboxylase (AADC) is an enzyme responsible for the final step in the synthesis of neurotransmitters dopamine and serotonin. AADC deficiency is a rare genetic disorder. Taiwanese carry a high prevalence of AADC deficiency due to the founder mutation IVS6+4 A>T, and patients usually die before the age 5-6 years due to severe motor dysfunction. Gene therapy with adeno-associated virus (AAV) serotype 2 (AAV2) driven human AADC (hAADC) has been tested in both animal models and Phase I clinical trials of Parkinson disease. We have done a compassionate treatment of 8 patients with AADC deficiency by AAV2-hAADC and demonstrated a result that among the treated patients, 4 could stand with support, 3 could sit with support, and there was no virus-associated toxicity. The longest follow up has exceeded 4 years. This study is to prove the safety and efficacy of AAV2-hAADC treatment for patients with Aromatic L-amino acid decarboxylase (AADC) deficiency.


Minimum age: 24 Months. Maximum age: N/A. Gender(s): Both.


Inclusion Criteria: 1. A definitive diagnosis of AADC deficiency, including a CSF study showing decreased levels of HVA and 5-HIAA, and an elevated L-dopa level, and the presence of at least one AADC gene pathologic mutation. 2. The patient must have clinical symptoms of AADC deficiency, include hypotonia, dystonia, and oculogyric crisis. 3. The patient must be older than 24 months of age or has skull bones suitable for surgery. 4. The parents of study participants must agree to comply in good faith with the required baseline and follow-up assessments. 5. The parents or guardians must understand and sign their child's informed consent form. Exclusion criteria 1. Other significant medical or neurological conditions which would create an unacceptable operative risk. Each case will be individually reviewed and the final decision shall rest with the Primary Investigator. 2. Preexisting immunity to AAV may limit AAV-mediated gene delivery. Patients with anti-AAV2 antibody titer higher than 1. 0 OD will be excluded. 3. The patient cannot take medicines that will alter the effect of this clinical trial.

Locations and Contacts

National Taiwan University Hospital, Taipei 100, Taiwan
Additional Information

literature search for AADC deficiency

Starting date: August 2014
Last updated: December 2, 2014

Page last updated: August 23, 2015

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