AADC Deficiency - Healing Genes

AADC Deficiency

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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 University of California San Francisco, Benioff Children’s Hospital seek patients with Aromatic l-amino acid decarboxylase (AADC) deficiency caused by mutations in the DDC gene, to trial a gene-modified stem cell therapy designed to deliver a normal copy of the DDC gene. The normal gene produces an enzyme that helps make key brain molecules called neurotransmitters.

Study participants will undergo a blood draw treatment that sorts out specific stem cells and returns the blood to the patient. After the gene modification in lab, the stem cells will be injected into 2 portions of the center of the brain, guided by MRI. The patient will be closely assessed during treatment, with follow-up for 2+ years.


  • Be 5 to 18 years of age
  • Have definite diagnosis of AADC deficiency
  • Be unable to ambulate independently (with or without assistive device)


  1. Screening before the treatment
  2. Leukapheresis will draw the needed immune cells but return blood cells to the body
  3. Researchers will use a virus in the lab to deliver the gene to the immune cells
  4. A dose of chemotherapy will be delivered
  5. The gene-modified immune cells will be re-infused to the patient
  6. The patient will be closely assessed during treatment, with follow-up for 2 years.


The study center is at the University of California San Francisco, Benioff Children’s Hospital. Map.



Jill A Imamura-Ching, RN, BSN  |  415-476-3446  |  [email protected]

Waldy E San Sebastian, PhD  |  415-502-4219  |  [email protected]



Krystof Bankiewicz

The National Institutes of Health (NIH)


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