Clinical Trials List
Protocol NumberNTUH-AADC-011
NCT Number(ClinicalTrials.gov Identfier)NCT02926066
2016-06-01 - 2018-12-31
Phase II
Terminated1
ICD-9270.2
Other disturbances of aromatic amino-acid metabolism
A clinical trial for treatment of aromatic L-amino acid decarboxylase (AADC) deficiency using AAV2-hAADC - An expansion
-
Trial Applicant
-
Sponsor
National Taiwan University Hospital
-
Trial scale
Taiwan Single Center
-
Update
2025/08/20
Investigators and Locations
Co-Principal Investigator
- WUH-LIANG HWU Division of Pediatrics
- NI-CHUNG LEE Division of General Internal Medicine
The Actual Total Number of Participants Enrolled
0 Completed
Audit
None
Condition/Disease
Aromatic L-amino acid decarboxylase (AADC) deficiency
Objectives
This clinical trial expansion is to offer patients, who are not enrolled into
the Phase I/II trial, a chance of treatment, to extend the experience in this
gene therapy, and to increase the dosage slightly to waive the drug dilution
procedure.
Test Drug
AADV2-hAADC
Active Ingredient
Recombinant viral vector
Dosage Form
Aqueous Solution
Aqueous Solution
Aqueous Solution
Dosage
1.81x10^11
2.37x10^11
2.37x10^11
Endpoints
Primary Outcome Measures: Efficacy of the intervention
1. Measurable neurotransmitter metabolite HVA or HIAA levels in CSF one year
after gene therapy.
2. Increase of PDMS-II score more than 10 points one year after gene therapy
Secondary Outcome Measures: Safety of the trial
1. Post-surgery intracerebral hemorrhage
2. Post-surgery CSF leakage
3. Severity of post-gene therapy dyskinesia (if NG tube feeding is required)
4. Incidence of other SAE (we will collect all AEs and their severity information,
including treatment-emergent adverse events)
Other secondary efficacy end points
1. Body weight gain
2. Increase putaminal signal in F-DOPA_PET study
3. Increase of score in other developmental tests
Exploratory end points
1. Correlation between anti-AAV2 titer and efficacy
2. Correlation between age and efficacy
1. Measurable neurotransmitter metabolite HVA or HIAA levels in CSF one year
after gene therapy.
2. Increase of PDMS-II score more than 10 points one year after gene therapy
Secondary Outcome Measures: Safety of the trial
1. Post-surgery intracerebral hemorrhage
2. Post-surgery CSF leakage
3. Severity of post-gene therapy dyskinesia (if NG tube feeding is required)
4. Incidence of other SAE (we will collect all AEs and their severity information,
including treatment-emergent adverse events)
Other secondary efficacy end points
1. Body weight gain
2. Increase putaminal signal in F-DOPA_PET study
3. Increase of score in other developmental tests
Exploratory end points
1. Correlation between anti-AAV2 titer and efficacy
2. Correlation between age and efficacy
Inclution Criteria
Inclusion Criteria:
1. A definitive diagnosis of AADC deficiency, such as a CSF study showing decreased
levels of HVA, 5-HIAA, an elevated L-DOPA level or the presence of at least one
AADC gene pathologic mutation etc.
2. Typical clinical manifestations of the disease, such as oculogyric crisis, hypotonia and
delayed development.
3. Over 2 years of age, or having adequate head circumference for surgery.
4. The patient must not older than 72 months of age.
5. Participating patient must be fully cooperative for assessments and tests conducted
before and throughout the entire trial.
6. The parents or guardians must sign the Informed Consent Form to give their consent.
1. A definitive diagnosis of AADC deficiency, such as a CSF study showing decreased
levels of HVA, 5-HIAA, an elevated L-DOPA level or the presence of at least one
AADC gene pathologic mutation etc.
2. Typical clinical manifestations of the disease, such as oculogyric crisis, hypotonia and
delayed development.
3. Over 2 years of age, or having adequate head circumference for surgery.
4. The patient must not older than 72 months of age.
5. Participating patient must be fully cooperative for assessments and tests conducted
before and throughout the entire trial.
6. The parents or guardians must sign the Informed Consent Form to give their consent.
Exclusion Criteria
Exclusion criteria
1. Obvious brain structural change in the judgment of the investigator.
2. The subject will be excluded if there is any health or neurological concern which might
increase the risk of surgery. The principal investigator has the right to assess whether
the subject is eligible for this trial based on the subject’s health condition.
3. Subject participating in this trial must not take any drug that might compromise this
clinical trial.
1. Obvious brain structural change in the judgment of the investigator.
2. The subject will be excluded if there is any health or neurological concern which might
increase the risk of surgery. The principal investigator has the right to assess whether
the subject is eligible for this trial based on the subject’s health condition.
3. Subject participating in this trial must not take any drug that might compromise this
clinical trial.
The Estimated Number of Participants
-
Taiwan
12 participants
-
Global
NA participants
