A Study About Aromatic L-Amino Acid Decarboxylase Deficiency (AADC) in Pediatric Patients
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 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.