AADC DeficiencyPhase 2NCT04903288
A Study of SmartFlow Magnetic Resonance (MR) Compatible Ventricular Cannula for Administering Eladocagene Exuparvovec to Pediatric Participants
A Phase 2 study testing Eladocagene Exuparvovec in people with AADC Deficiency, run by PTC Therapeutics at 6 sites in 3 countries.
Trial summary
This study will have a trial phase, extension phase, and a long-term extension phase. The primary objectives of the trial phase are to assess the pharmacodynamics (PD) of eladocagene exuparvovec treatment by evaluation of homovanillic acid (HVA) levels and to assess the safety of the SmartFlow® magnetic resonance (MR)… Read more about this study
- Who is it for?
- Ages 1 year to 17 years
- Conditions the study is for
- AADC Deficiency
- What is being tested?
- Eladocagene Exuparvovec
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 13 participants
- Where
- 6 sitesin 3 countries
- Study dates
- 12 May 2021to 30 Apr 2028
- Phase
- Phase 2
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 year to 17 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- Pediatric participants must have genetically-confirmed AADC deficiency with typical clinical characteristics and decreased AADC enzyme activity in plasma.
- Cranium sufficiently developed to allow placement of ClearPoint® system for stereotactic surgery.
- Persistent neurological defects secondary to AADC deficiency despite standard medical therapy (dopamine agonists, monoamine oxidase inhibitor, pyridoxine, or other forms of vitamin B6) in the opinion of the investigator.
- Unable to ambulate independently (with or without assistive device).
- Baseline hematology, chemistry, and coagulation values within the normal pediatric laboratory value ranges, unless in the investigator's opinion the out of range values are not clinically significant with respect to the participant's suitability for surgery.
- Participant must test negative for coronavirus disease of 2019 (COVID-19) a maximum of 72 hours prior to receiving gene therapy.
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- Participant must be on stable dosage for 3 months prior to baseline for all medications related to treatment of AADC deficiency, including dopamine agonists, monoamine oxidase inhibitors, anticholinergic drugs, and vitamin B6.
- Females of childbearing potential must have a negative pregnancy test at screening and baseline and agree to abstinence or double-barrier form of contraception for the duration of the study following discharge from the hospital (acceptable methods will be determined by the site).
- Males sexually active with females of childbearing potential must agree to use a barrier method of birth control during the study following discharge from the hospital.
- Parent(s)/legal guardian(s) of the participant must agree to comply with the requirements of the study, including the need for frequent and prolonged follow up.
- Parent(s)/legal guardian(s) with custody of the participant must give their consent for the participant to enroll in the study.
Who cannot join
- The participant has presence of other significant medical or neurological conditions that would create an unacceptable operative or anesthetic risk.
- Participants with pyridoxine 5'-phosphate oxidase or tetrahydrobiopterin (BH4) deficiency.
- Contraindication for imaging studies (computed tomography [CT] scan, PET or magnetic resonance imaging [MRI]), including sedation limitations or metal that would interfere with a brain MRI.
- Anti-adeno-associated virus, serotype 2 (anti-AAV2) antibody titer higher than 1:1200 or >1 optical density value by enzyme-linked immunosorbent assay.
- Participants who have received treatment with other experimental therapies within the last 24 weeks prior to planned gene therapy administration, or any treatment ever with a gene therapy.
- Evidence of a clinically active infection.
- Females who are pregnant or breast feeding.
Trial locations and contacts
6 sites in 3 countries.
6 sites in 3 countries
United States4 sites
Boston Children's Hospital
Boston, Massachusetts, 02115
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, 45229
Duke University Hospital
Durham, North Carolina, 27705
Texas Children's Hospital
Houston, Texas, 77030
Taiwan1 site
National Taiwan University Hospital, Department of Pediatrics and Medical Genetics
Taipei, 10041
About this study
Official title: An Open-Label Trial to Address the Safety of the SmartFlow MR-Compatible Ventricular Cannula for Administering Eladocagene Exuparvovec to Pediatric Subjects
This study will have a trial phase, extension phase, and a long-term extension phase. The primary objectives of the trial phase are to assess the pharmacodynamics (PD) of eladocagene exuparvovec treatment by evaluation of homovanillic acid (HVA) levels and to assess the safety of the SmartFlow® magnetic resonance (MR) Compatible Ventricular Cannula for administering eladocagene exuparvovec to pediatric participants with aromatic L-amino acid decarboxylase (AADC) deficiency. The extension phase is designed to capture additional clinical information for eladocagene exuparvovec through study evaluations, changes in motor development, AADC-specific symptoms, and other PD measures. The long-term extension phase is designed to capture long-term safety and efficacy data from participants treated with eladocagene exuparvovec.
- Conditions
- AADC Deficiency
- Being tested
- Eladocagene Exuparvovec
- Keywords
- AADC Deficiency gene therapy
- Medical subject headings
- Aromatic amino acid decarboxylase deficiency
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Eladocagene ExuparvovecGenetic
Also called KEBILIDI™
Four 0.08 milliliters (mL) infusions at a dose of 0.45×10^11 vg and a volume of 80 microliters (μl) per site to 4 sites (2 per putamen), for the total dose of 1.8×10^11 vg and a total volume of 320 μl per participant.
| Study group | Role | What they receive |
|---|---|---|
| Eladocagene Exuparvovec | Experimental | Participants will receive eladocagene exuparvovec intraoperatively at 1.8×10^11 vector genomes (vg) via SmartFlow® MR Compatible Ventricular Cannula in a single operative session. Participants will receive standard of care for their AADC deficiency during the study. Receives: Genetic: Eladocagene Exuparvovec |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change From Baseline in HVA Metabolite Level at the End of the Trial Phase
HVA is a main metabolite of dopamine and HVA CSF levels are recognized as a proxy for dopamine levels in the brain.
Measured: Baseline (Day 1), Week 8
Number of Participants With Adverse Events (AEs) Associated With the Surgical Administration of Eladocagene Exuparvovec Using the SmartFlow® MR-Compatible Ventricular Cannula
An AE is any untoward medical occurrence associated with the use of a drug in humans, whether or not it is considered related to the drug. An AE can therefore be any unfavorable and unintended sign (including an abnormal laboratory finding), symptom, or disease in a study participant who was administered gene therapy in this study. Number of participants with AEs related to the SmartFlow MR-compatible ventricular cannula used to administer eladocagene exuparvovec to pediatric participants at the end of Trial Phase (8 weeks after administration) are reported. A summary of serious and all other non-serious adverse events regardless of causality is located in the Reported Adverse Events module."
Measured: Baseline (Day 1) up to Week 8
Secondary outcomes (10)
Change From Baseline in Neurotransmitter Cerebrospinal Fluid (CSF) Metabolite HVA at Week 48
Measured: Baseline (Day 1), Week 48
Change From Baseline in Positron Emission Tomography (PET) Imaging of Putaminal-Specific L-6-[18F] Fluoro-3,4-Dihydroxyphenylalnine (18F-DOPA) PET Uptake at the End of the Trial Phase (Week 8) and the Extension Phase (Week 48)
Measured: Baseline (Day 1), Week 8, Week 48
Change From Baseline in Neurotransmitter CSF Metabolites 5-hydroxyindoleacetic Acid (5-HIAA), and 3-O-methyldopa (3-OMD) at Weeks 8 and 48
Measured: Baseline (Day 1), Weeks 8 and 48
Number of Participants Who Attain Motor Milestones
Measured: Baseline (Day 1) up to Week 260
Change in Peabody Developmental Motor Scale, Second Edition (PDMS-2)
Measured: Baseline (Day 1), Week 260
Change in Bayley Scale of Infant Development, Third Edition (Bayley-III)
Measured: Baseline (Day 1), Week 260
Change in EuroQol-5 Dimensions Youth Version (EQ-5D-Y)
Measured: Baseline (Day 1), Week 260
Change in Body Weight
Measured: Baseline (Day 1), Week 260
Number of Participants With AADC-Specific Symptoms
Measured: Baseline (Day 1) up to Week 260
"Number of Participants With Treatment-Emergent Adverse Events (TEAEs) "
Measured: Baseline (Day 1) up to Week 260
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 May 2021
- Study start12 May 2021
- Primary completion22 May 2023
- Study completion30 Apr 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Other trials for AADC DeficiencyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 13 participants (actual)
Sponsor and investigators
- Lead sponsor
- PTC Therapeutics
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04903288
- Sponsor's protocol ID
- PTC-AADC-GT-002
- Status last verified
- Apr 2026
- First submitted
- 21 May 2021
- Last updated
- 24 Apr 2026
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 24 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Open-Label Trial to Address the Safety of the SmartFlow MR-Compatible Ventricular Cannula for Administering Eladocagene Exuparvovec to Pediatric Subjects
- ClinicalTrials.gov ID
- NCT04903288
- Acronym / sponsor ID
- PTC-AADC-GT-002
- Conditions
- AADC Deficiency
- Keywords
- AADC Deficiency gene therapy
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 13 participants (actual)
- Lead sponsor
- PTC TherapeuticsIndustry (pharma, biotech, devices)
- Study start
- 12 May 2021 (actual)
- Primary completion
- 22 May 2023 (actual)
- Study completion
- 30 Apr 2028 (estimated)
- First posted
- 26 May 2021 (actual)
- Results
- Posted 1 Jan 2025
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This study will have a trial phase, extension phase, and a long-term extension phase. The primary objectives of the trial phase are to assess the pharmacodynamics (PD) of eladocagene exuparvovec treatment by evaluation of homovanillic acid (HVA) levels and to assess the safety of the SmartFlow® magnetic resonance (MR) Compatible Ventricular Cannula for administering eladocagene exuparvovec to pediatric participants with aromatic L-amino acid decarboxylase (AADC) deficiency. The extension phase is designed to capture additional clinical information for eladocagene exuparvovec through study evaluations, changes in motor development, AADC-specific symptoms, and other PD measures. The long-term extension phase is designed to capture long-term safety and efficacy data from participants treated with eladocagene exuparvovec.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Eladocagene Exuparvovec | Experimental | Genetic: Eladocagene ExuparvovecParticipants will receive eladocagene exuparvovec intraoperatively at 1.8×10^11 vector genomes (vg) via SmartFlow® MR Compatible Ventricular Cannula in a single operative session. Participants will receive standard of care for their AADC deficiency during the study. |
Who may qualify
- Ages
- 1 year to 17 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (11 listed)
- Pediatric participants must have genetically-confirmed AADC deficiency with typical clinical characteristics and decreased AADC enzyme activity in plasma.
- Cranium sufficiently developed to allow placement of ClearPoint® system for stereotactic surgery.
- Persistent neurological defects secondary to AADC deficiency despite standard medical therapy (dopamine agonists, monoamine oxidase inhibitor, pyridoxine, or other forms of vitamin B6) in the opinion of the investigator.
- Unable to ambulate independently (with or without assistive device).
- Baseline hematology, chemistry, and coagulation values within the normal pediatric laboratory value ranges, unless in the investigator's opinion the out of range values are not clinically significant with respect to the participant's suitability for surgery.
Key exclusion criteria (7 listed)
- The participant has presence of other significant medical or neurological conditions that would create an unacceptable operative or anesthetic risk.
- Participants with pyridoxine 5'-phosphate oxidase or tetrahydrobiopterin (BH4) deficiency.
- Contraindication for imaging studies (computed tomography [CT] scan, PET or magnetic resonance imaging [MRI]), including sedation limitations or metal that would interfere with a brain MRI.
- Anti-adeno-associated virus, serotype 2 (anti-AAV2) antibody titer higher than 1:1200 or >1 optical density value by enzyme-linked immunosorbent assay.
- Participants who have received treatment with other experimental therapies within the last 24 weeks prior to planned gene therapy administration, or any treatment ever with a gene therapy.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Eladocagene ExuparvovecAlso: KEBILIDI™Four 0.08 milliliters (mL) infusions at a dose of 0.45×10^11 vg and a volume of 80 microliters (μl) per site to 4 sites (2 per putamen), for the total dose of 1.8×10^11 vg and a total volume of 320 μl per participant. | Genetic | Eladocagene Exuparvovec |
Primary outcome
Change From Baseline in HVA Metabolite Level at the End of the Trial Phase
Time frame: Baseline (Day 1), Week 8
HVA is a main metabolite of dopamine and HVA CSF levels are recognized as a proxy for dopamine levels in the brain.
Number of Participants With Adverse Events (AEs) Associated With the Surgical Administration of Eladocagene Exuparvovec Using the SmartFlow® MR-Compatible Ventricular Cannula
Time frame: Baseline (Day 1) up to Week 8
An AE is any untoward medical occurrence associated with the use of a drug in humans, whether or not it is considered related to the drug. An AE can therefore be any unfavorable and unintended sign (including an abnormal laboratory finding), symptom, or disease in a study participant who was administered gene therapy in this study. Number of participants with AEs related to the SmartFlow MR-compatible ventricular cannula used to administer eladocagene exuparvovec to pediatric participants at the end of Trial Phase (8 weeks after administration) are reported. A summary of serious and all other non-serious adverse events regardless of causality is located in the Reported Adverse Events module."
10 secondary outcomes
Change From Baseline in Neurotransmitter Cerebrospinal Fluid (CSF) Metabolite HVA at Week 48
Time frame: Baseline (Day 1), Week 48
Change From Baseline in Positron Emission Tomography (PET) Imaging of Putaminal-Specific L-6-[18F] Fluoro-3,4-Dihydroxyphenylalnine (18F-DOPA) PET Uptake at the End of the Trial Phase (Week 8) and the Extension Phase (Week 48)
Time frame: Baseline (Day 1), Week 8, Week 48
Change From Baseline in Neurotransmitter CSF Metabolites 5-hydroxyindoleacetic Acid (5-HIAA), and 3-O-methyldopa (3-OMD) at Weeks 8 and 48
Time frame: Baseline (Day 1), Weeks 8 and 48
Number of Participants Who Attain Motor Milestones
Time frame: Baseline (Day 1) up to Week 260
Change in Peabody Developmental Motor Scale, Second Edition (PDMS-2)
Time frame: Baseline (Day 1), Week 260
Change in Bayley Scale of Infant Development, Third Edition (Bayley-III)
Time frame: Baseline (Day 1), Week 260
Change in EuroQol-5 Dimensions Youth Version (EQ-5D-Y)
Time frame: Baseline (Day 1), Week 260
Change in Body Weight
Time frame: Baseline (Day 1), Week 260
Number of Participants With AADC-Specific Symptoms
Time frame: Baseline (Day 1) up to Week 260
"Number of Participants With Treatment-Emergent Adverse Events (TEAEs) "
Time frame: Baseline (Day 1) up to Week 260
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Apr 2026.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
Related trials for AADC Deficiency
RecruitingObservational study
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A Single-Stage, Adaptive, Open-label, Dose Escalation Safety and Efficacy Study of AADC Deficiency in Pediatric Patients
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
6 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing Eladocagene Exuparvovec in people with AADC Deficiency, run by PTC Therapeutics at 6 sites in 3 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 11 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 24 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 6 sites in United States, Israel, Taiwan. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
Yes. Results are posted in the registry (first posted 1 Jan 2025). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change From Baseline in HVA Metabolite Level at the End of the Trial Phase (time frame: Baseline (Day 1), Week 8). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 Apr 2026.