Actively Recruiting
A Single-Stage, Adaptive, Open-label, Dose Escalation Safety and Efficacy Study of AADC Deficiency in Pediatric Patients
Led by Krzysztof Bankiewicz · Updated on 2025-10-21
42
Participants Needed
3
Research Sites
782 weeks
Total Duration
On this page
Sponsors
K
Krzysztof Bankiewicz
Lead Sponsor
N
National Institute of Neurological Disorders and Stroke (NINDS)
Collaborating Sponsor
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
A Single-Stage, Adaptive, Open-label, Dose Escalation Safety and Efficacy Study of AADC Deficiency in Pediatric Patients
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Definite diagnosis of AADC deficiency confirmed by at least two of: CSF neurotransmitter profile, plasma AADC activity ≤ 5 pmol/min/mL, or genetic confirmation of relevant mutations.
- Age 24 months or older.
- Inadequate benefit from standard medical therapies including dopamine agonists, monoamine oxidase inhibitors, or vitamin B6.
- History of motor developmental delay with inability to walk independently by 18 months.
- Cranium developed with sutures closed to allow surgical placement of SmartFrame® system for MRI-guided targeting.
- Brain MRI shows no clinically significant conditions or malformations increasing surgical risk.
- Parent(s)/legal guardian(s) agree to comply with study requirements including frequent and prolonged follow-up.
- Both parents or legal guardians provide consent unless one parent is deceased, unknown, incompetent, unavailable, or sole custodian.
- Baseline hematology, chemistry, and coagulation labs within normal pediatric ranges or judged not clinically significant by investigator.
You will not qualify if you...
- Intracranial tumors or structural brain abnormalities posing excessive surgical risk.
- Significant medical or neurological conditions causing unacceptable operative or anesthetic risk, including congenital heart or respiratory diseases requiring oxygen, history of serious anesthesia complications, cardiorespiratory arrest, liver or kidney failure, malignancy, or HIV infection.
- Prior stereotactic neurosurgery.
- Coagulopathy or ongoing anticoagulant therapy.
- Contraindications to sedation for surgery or imaging.
- Use of any investigational agent within 60 days before baseline or during the study.
- Clinically active adenovirus or herpes virus infection at screening.
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 3 locations
1
University of California San Francisco, Benioff Children's Hospital
San Francisco, California, United States, 94143
Actively Recruiting
2
Nationwide Children's Hospital
Columbus, Ohio, United States, 43205
Actively Recruiting
3
The Ohio State University Medical Center
Columbus, Ohio, United States, 43221
Actively Recruiting
Research Team
A
Andrea Davis, MS
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
TREATMENT
Number of Arms
1
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