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Virus Therapy
Gene Therapy for AADC Deficiency (AADC Trial)
Phase 1
Recruiting
Led By Nalin Gupta, MD, PhD
Research Sponsored by Krystof Bankiewicz
Eligibility Criteria Checklist
Specific guidelines that determine who can or cannot participate in a clinical trial Must have
Age 24 months and older
Brain MRI does not show any conditions or malformations that are clinically significant with respect to risks for stereotactic brain surgery
Must not have
Presence of other significant medical or neurological conditions that would create an unacceptable operative or anesthetic risk (including congenital heart disease, respiratory disease with home oxygen requirement, history of serious anesthesia complications during previous elective procedures, history of cardiorespiratory arrest), liver or renal failure, malignancy, or HIV positive
Coagulopathy, or need for ongoing anticoagulant therapy
Timeline
Screening 3 weeks
Treatment Varies
Follow Up 2 years
Awards & highlights
Summary
This trial is testing a gene therapy for children with AADC deficiency, a disease that affects the brain's ability to produce certain neurotransmitters. The therapy involves injecting a virus carrying the healthy gene into the brain.
Who is the study for?
This trial is for children aged 4 and older with AADC deficiency, a rare metabolic disorder. They must have a stable medication regimen, confirmed diagnosis through specific tests, be unable to walk independently, and have no recent changes in medications. Children who haven't benefited from standard treatments may qualify. Those with certain medical conditions or previous brain surgery are excluded.
What is being tested?
The study is testing the safety and effectiveness of delivering the gene therapy drug AAV2-hAADC directly into parts of the brain responsible for movement control in kids with AADC deficiency. The goal is to see if this treatment can improve symptoms related to this genetic condition.
What are the potential side effects?
While not explicitly listed here, potential side effects could include reactions at the injection site in the brain, immune responses to the viral vector used for gene delivery (AAV2), and any complications arising from neurosurgical procedures.
Eligibility Criteria
Inclusion Criteria
You may be eligible if you check “Yes” for the criteria belowSelect...
I am at least 24 months old.
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My brain MRI is clear for stereotactic surgery.
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I couldn't walk on my own without help by 18 months old.
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My skull is fully formed for a specific head frame placement.
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I have been diagnosed with AADC deficiency based on specific test results.
Exclusion Criteria
You may be eligible for the trial if you check “No” for criteria below:Select...
I do not have major health issues that would make surgery or anesthesia very risky.
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I have a blood clotting disorder or need continuous blood thinner treatment.
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I have not taken any experimental drugs in the last 60 days.
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I have had precise brain surgery before.
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I cannot be sedated for surgery or certain imaging tests.
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I show signs of an active adenovirus or herpes virus infection.
Timeline
Screening ~ 3 weeks3 visits
Treatment ~ Varies
Follow Up ~ 2 years
Screening ~ 3 weeks
Treatment ~ Varies
Follow Up ~2 years
Treatment Details
Study Objectives
Outcome measures can provide a clearer picture of what you can expect from a treatment.Primary outcome measures
Operative Surgical Procedures
CSF neurotransmitter metabolite concentrations
Secondary outcome measures
Fluorodopa PET scan
Gross Motor Function Measure
Symptom Diary created by PI
Trial Design
1Treatment groups
Experimental Treatment
Group I: Single treatment armExperimental Treatment1 Intervention
Single-stage dose-escalation, open-label safety study of AAV2-hAADC delivered by image-guided convection-enhanced delivery bilaterally into the substantia nigra pars compacta and the ventral tegmental area of pediatric patients with AADC deficiency. Primary aim is to determine the dose for future studies based on safety, biomarkers of pharmacological activity of AADC and clinical outcomes. Cohort 1 (3 subjects) will receive a single low dose of AAV2 hAADC. The total AAV2-hAADC dose will be infused via MR guided infusion into 4 sites in both the left and right SNc and VTA. Dose intervals will be 90 days between the first 3 subjects. Cohort 2 dose (4 subjects) will be determined by Cohort 1 results. Following Cohort 2, Cohort 3/4 will be dose and divided divided by age. Cohorts 3/4 will receive the same dose by MR guided infusion to 1-2 sites bilaterally in-between the SNc and VTA. Cohort 5 (24-47mo old) will have same vector concentration and lower volume of infusion than Cohorts 3/4
Treatment
First Studied
Drug Approval Stage
How many patients have taken this drug
AAV2-hAADC
2016
Completed Phase 2
~20
Find a Location
Who is running the clinical trial?
Krystof BankiewiczLead Sponsor
Krzysztof BankiewiczLead Sponsor
National Institute of Neurological Disorders and Stroke (NINDS)NIH
1,362 Previous Clinical Trials
650,708 Total Patients Enrolled
Media Library
Eligibility Criteria:
This trial includes the following eligibility criteria:- I am at least 24 months old.My brain MRI is clear for stereotactic surgery.I have a blood clotting disorder or need continuous blood thinner treatment.Standard treatments haven't improved my eye movement issues or developmental delays.I couldn't walk on my own without help by 18 months old.My skull is fully formed for a specific head frame placement.I have not taken any experimental drugs in the last 60 days.I do not have major health issues that would make surgery or anesthesia very risky.I have been diagnosed with AADC deficiency based on specific test results.I have had precise brain surgery before.I cannot be sedated for surgery or certain imaging tests.I do not have significant brain abnormalities that would increase risk in a study.I show signs of an active adenovirus or herpes virus infection.
Research Study Groups:
This trial has the following groups:- Group 1: Single treatment arm
Awards:
This trial has 1 awards, including:- No Placebo-Only Group - All patients enrolled in this study will receive some form of active treatment.
Timeline:
This trial has the following timeline:- Screening: It may take up to 3 Weeks to process to see if you qualify in this trial.
- Treatment: The duration you will receive the treatment varies.
- Follow Ups: You may be asked to continue sharing information regarding the trial for 6 Months after you stop receiving the treatment.
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