Official Title

A Single-Stage, Adaptive, Open-Label Dose Escalation Safety Study of Adeno-Associated Virus Encoding Human Aromatic L-Amino Acid Decarboxylase (AAV2-hAADC) Administered by MR- guided Infusion into the Midbrain in Pediatric Patients with AADC Deficiency

Purpose

The overall objective of this study is to determine the safety and efficacy of AAV2-hAADC delivered to the substantia nigra pars compacta (SNc) and ventral tegmental area (VTA) in children with aromatic L-amino acid decarboxylase (AADC) deficiency, and to see if there is a demonstration of effective restoration of AADC function by assays of CSF neurotransmitter metabolites and F-DOPA PET imaging, as allowed by subject’s ability to travel to undergo follow-up visits.

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Inclusion Criteria

• Diagnosis of AADC deficiency from genetic test and CSF/blood enzyme test
• Failed to derive adequate benefit from standard medical therapy as judged by presence of residual oculugyric crises and developmental delay.
• Documented history of motor developmental delay, with inability to walk independently without support by age 18 months.
• Both parents (or legal guardians) must give their consent for their child’s participation in the study parents unless (i.) one parent is deceased, unknown or incompetent; (ii.) one parent is not reasonably available; or (iii.) one parent has responsibility for the care and custody of the child.

Inclusion Criteria varies, please contact Study Coordinator for more information.

Exclusion Criteria

• Presence of other significant medical or neurological conditions that would create an unacceptable operative or anesthetic risk.
• Previous stereotactic neurosurgery.
• Coagulopathy, or need for ongoing anticoagulant therapy.
• Receipt of any investigational agent within 60 days prior to Baseline and during study participation.

Exclusion Criteria varies, please contact Study Coordinator for more information. 

Age Range

2 years and up