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 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
THE STUDY INVOLVES:
- Screening to confirm eligibility.
- Participants undergo MRI-guided injections of the investigatory gene therapy to the substantia nigra pars compacta (SNc) and ventral tegmental area (VTA).
- Lab and physical assessments, including home diary of symptoms, will be required for 2 years.
LOCATIONS AND CONTACTS:
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]
National Institutes of Health (NIH)
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