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
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)
THE STUDY INVOLVES:
- Screening before the treatment
- Leukapheresis will draw the needed immune cells but return blood cells to the body
- Researchers will use a virus in the lab to deliver the gene to the immune cells
- A dose of chemotherapy will be delivered
- The gene-modified immune cells will be re-infused to the patient
- The patient will be closely assessed during treatment, with follow-up for 2 years.
LOCATIONS AND CONTACTS:
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]
The National Institutes of Health (NIH)
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