A Phase I/II Clinical Trial for Treatment of Aromatic L-amino Acid

Decarboxylase (AADC) Deficiency Using AAV2-hAADC

Status: Enrolling by invitation
Study Phase: Phase 1/Phase 2
Start Date: August 2014|Completion Date: September 2016
Condition(s): Aromatic L-amino Acid Decarboxylase (AADC) Deficiency
Full Title of Study
A Phase I/II Clinical Trial for Treatment of Aromatic L-amino Acid Decarboxylase
(AADC) Deficiency Using AAV2-hAADC
Overview
This Phase I/II trial is to prove the efficacy and safety of AAV2-hAADC to treat patients
with AADC deficiency.
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.

Study Details
Study Type

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

Investigator Details
Lead Sponsor: National Taiwan University Hospital
Principal Investigator: Wuh-Liang Hwu, MD Department of Pediatrics and Medical Genetics, National
Taiwan University Hospital

Trial Location Details

Facility: National Taiwan University Hospital Taipei, Taiwan

Interventions
Genetic: gene therapy
AAV2-hAADC viral vector will be injected into bilateral putamen by stereotactic surgery.

Information Source
ID Number: NTUH-AADC-010
NCT Identifier: NCT01395641
Health Authority: Taiwan: Department of Health
Full Source of Clinical Trial Data: https://clinicaltrials.gov/show/NCT01395641
ClinicalTrials.gov processed this data on June 08, 2016
Clinical trials entries are delivered from the US National Institutes of Health and are not reviewed separately
by this site. Please see the full source link above for retrieving further details from the government database.