AADC Deficiency in Pediatric Patients (AADC) - Healing Genes

AADC Deficiency in Pediatric Patients (AADC)

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A Single-Stage, Adaptive, Open-label, Dose Escalation Safety and Efficacy Study of AADC Deficiency in Pediatric Patients (AADC)

Single-Stage, Open-Label, Safety and Efficacy Study of Adeno-Associated Virus Encoding Human Aromatic L-Amino Acid Decarboxylase by Magnetic Resonance MR-guided Infusion Into Midbrain in Pediatric Patients With AADC Deficiency

Phase 1


Doctors at the Benioff Children’s Hospital in San Francisco, CA, seek patients with aromatic L-amino acid decarboxylase (AADC) deficiency to trial an investigatory gene therapy, a virus engineered to transfer a functional AADC gene to the patient, so that their bodies can process aromatic L-amino acids. The treatment, injected into the key portion of the brain where researchers will guide it, intends to correct the patients’ motor deficits: loss of motor function and dystonic movements.

Participants will undergo MRI-guided injections of the investigatory gene therapy to several spots in the brain, then be assessed for 2 years.


  • Be 5 to 18 years of age
  • Have a definite diagnosis of AADC deficiency
  • Be unable to ambulate independently


  1. Screening to confirm eligibility.
  2. Participants undergo MRI-guided injections of the investigatory gene therapy to the substantia nigra pars compacta (SNc) and ventral tegmental area (VTA).
  3. Lab and physical assessments, including home diary of symptoms, will be required for 2 years.

The study site is at the Benioff Children’s Hospital at the University of California San Francisco, CA. Map.
Jill A Imamura-Ching, RN, BSN  |  415-476-3446  |  [email protected]
Waldy E San Sebastian, PhD  |  415-502-4219  |  [email protected]
Krystof Bankiewicz
National Institutes of Health (NIH)
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