Aromatic L-amino Acid Decarboxylase DeficiencyPhase 2/3NCT06432140
A Trial to Evaluate Safety and Efficacy of a Product Named VGN-R09b in Severe AADC Deficiency
A Phase 2/3 study testing VGN-R09b injection in people with Aromatic L-amino Acid Decarboxylase Deficiency, run by Shanghai Vitalgen BioPharma Co., Ltd. at 1 site in China.
Trial summary
This trial includes dose-escalating part (phase 1) and dose confirming part, to prove the safety and efficacy of VGN-R09b to treat patients with severe AADC deficiency Read more about this study
- Who is it for?
- Ages 18 months to 8 years
- Conditions the study is for
- Aromatic L-amino Acid Decarboxylase Deficiency
- What is being tested?
- VGN-R09b injection
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 13 participants
- Where
- 1 siteChina
- Study dates
- 2 Jul 2024to 20 Sep 2030
- Phase
- Phase 2/3
- Are there results?
- Not yet: the study is under way
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 18 months to 8 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- The child patient has to be ≥18 months old and < 8 years old, and a head circumference big enough for surgery as judged by investigator.
- Historical diagnosis of AADC deficiency with clinical symptoms consistency, AND with Molecular genetic confirmation of homozygous or compound heterozygous mutation point of IVS6+4A>T in DDC gene.
- With Plasma AADC activity less than or equal to 12 pmol/min/mL.
- Motor development at baseline <3 months (head fully uncontrollable at baseline）, and Failed to benefit from standard medical therapy (dopamine agonists, monoamine oxidase inhibitor or related form of Vitamin B6) at discretion of investigators.
- Parent(s)/legal guardian(s) with custody of subject must give their consent for subject to enroll in the study.
- Parent(s)/legal guardian(s) of the subject must agree to comply with the requirements of the study, including providing disease information and support disease assessment of symptoms.
Who cannot join
- Intracranial neoplasm or any structural brain abnormality or lesion (e.g., severe brain atrophy, white matter degenerative changes), which, in the opinion of the study investigators, would confer excessive risk and/or inadequate potential for benefit.
- 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.
- Severe coagulopathy, or need for ongoing anticoagulant therapy.
- clinically active infection or with severe infection within 12 weeks before screening (e.g. adenovirus or herpes virus, pneumonia, sepsis, central nervous system infection).
- Previous stereotactic neurosurgery, or any gene/cell therapy.
- Received live vaccination within 4 weeks.
- Contraindication to sedation during surgery or imaging studies (PET or MRI).
Trial locations and contacts
1 site in 1 country.
About this study
Official title: An Open, Dose-escalating and Dose Confirmation Trial to Evaluate the Safety and Efficacy of VGN-R09b by Intra Putamen Injection in Patients With Severe Aromatic L-amino Acid Decarboxylase (AADC) Deficiency
This trial includes dose-escalating part (phase 1) and dose confirming part, to prove the safety and efficacy of VGN-R09b to treat patients with severe AADC deficiency
Read the detailed description
Aromatic L-amino acid decarboxylase (AADC) is an enzyme responsible for the final step in the synthesis of neurotransmitters dopamine and serotonin. AADC deficiency is a rare genetic disorder. VGN-R09b is a kind of Gene therapy with adeno-associated virus (AAV) serotype 9 (AAV9) driven human AADC (hAADC) being injected directly into putamen.
This is an open, dose-escalating and dose confirming study. The sponsor plans to explore two dose levels (6.0×1011vg and 1.28×1012vg) in dose-escalating phase (three subjects each cohort), then plans to have 10 subjects enrolled for dose confirmation phase.
This study is to give evidence for the safety and efficacy of VGN-R09b treatment for patients with severe Aromatic L-amino acid decarboxylase (AADC) deficiency.
- Being tested
- VGN-R09b injection
- Keywords
- AADC, AAV9, Central Nervous System (CNS) 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.
VGN-R09b injectionGenetic
Two levels of VGN-R09b will be injected into bilateral putamen in dose-escalating phase, and one dose level will be injected in dose confirming phase
| Study group | Role | What they receive |
|---|---|---|
| VGN-R09b injection | Experimental | Different levels of VGN-R09b will be injected into bilateral putamen by stereotactic surgery Receives: Genetic: VGN-R09b injection |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of Adverse Events (AEs), Serious Adverse Events (SAEs)
Vital signs, physical examination, laboratory test will be monitored after drug injection
Measured: up to Week 52
Number of subjects who achieved motor development milestones
Four milestones, including Head control, Sit independently, Stand/stepping with support, Walk with minimal assistant, would be assessed according to definition in Peabody Developmental Motor Scale 2nd edition (PDMS-2). Each milestone would be scored as 0, 1 or 2, and score 2 means achievement of the milestone.
Measured: up to 24 months
Secondary outcomes (7)
Change in brain AADC activity
Increase in signal in the putamen and nigra on Fluorodopa-PET imaging as brain AADC activity measure
Measured: up to 5 Years
Change in Cerebrospinal Fluid (CSF) neurotransmitter metabolite concentrations
Neurotransmitter metabolite concentrations of Homovanillic Acid/Hydroxyindoleacetic Acid (HVA/5-HIAA) would be measured
Measured: up to 5 Years
Change from baseline in motor function
Motor function would be assessed by Peabody Developmental Motor Scale 2nd edition (PDMS-2). The score ranges from 0 to 482, and higher score means the better in motor function.
Measured: up to 5 Years
Change in number of Clinical symptoms
Number of disease related symptoms
Measured: up to 5 Years
Viral shedding
Concentrations of Viral genome in serum/urine would be measured
Measured: up to 1 week
Immunogenicity after injection
Subject number with positive antibodies of AAV9/AADC/Glial Cell Line-Derived Neurotrophic Factor (GDNF) in blood would be reported
Measured: up to 26 weeks
Number of Adverse Events (AEs), Serious Adverse Events (SAEs) in Long-term follow-up
Drug-related AEs and SAEs would be monitored as long as 5 years after injection
Measured: up to 5 Years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 May 2024
- Study start2 Jul 2024
- Primary completion23 Jul 2026 (estimated)
- Study completion20 Sep 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Aromatic L-amino Acid Decarboxylase 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 2/3
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- VGN-R09b will be injected into bilateral putamen by stereotactic surgery
- Masking
- None (open label)
- Enrolment
- 13 participants (actual)
Sponsor and investigators
- Lead sponsor
- Shanghai Vitalgen BioPharma Co., Ltd.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- yi Wang, MD, Principal investigator, Children's Hospital of Fudan Universityjiwen Wang, MD, Principal investigator, Shanghai Children's Medical Centeryunhai song, MD, Principal investigator, Shanghai Children's Medical Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06432140
- Sponsor's protocol ID
- VGN-R09b-102
- Status last verified
- Apr 2026
- First submitted
- 17 May 2024
- Last updated
- 21 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 21 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Open, Dose-escalating and Dose Confirmation Trial to Evaluate the Safety and Efficacy of VGN-R09b by Intra Putamen Injection in Patients With Severe Aromatic L-amino Acid Decarboxylase (AADC) Deficiency
- ClinicalTrials.gov ID
- NCT06432140
- Acronym / sponsor ID
- VGN-R09b-102
- Keywords
- AADC, AAV9, Central Nervous System (CNS) gene therapy
- Phase
- Phase 2/3
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 13 participants (actual)
- Lead sponsor
- Shanghai Vitalgen BioPharma Co., Ltd.Industry (pharma, biotech, devices)
- Study start
- 2 Jul 2024 (actual)
- Primary completion
- 23 Jul 2026 (estimated)
- Study completion
- 20 Sep 2030 (estimated)
- First posted
- 29 May 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This trial includes dose-escalating part (phase 1) and dose confirming part, to prove the safety and efficacy of VGN-R09b to treat patients with severe AADC deficiency
Detailed description
Aromatic L-amino acid decarboxylase (AADC) is an enzyme responsible for the final step in the synthesis of neurotransmitters dopamine and serotonin. AADC deficiency is a rare genetic disorder. VGN-R09b is a kind of Gene therapy with adeno-associated virus (AAV) serotype 9 (AAV9) driven human AADC (hAADC) being injected directly into putamen.
This is an open, dose-escalating and dose confirming study. The sponsor plans to explore two dose levels (6.0×1011vg and 1.28×1012vg) in dose-escalating phase (three subjects each cohort), then plans to have 10 subjects enrolled for dose confirmation phase.
This study is to give evidence for the safety and efficacy of VGN-R09b treatment for patients with severe Aromatic L-amino acid decarboxylase (AADC) deficiency.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- VGN-R09b will be injected into bilateral putamen by stereotactic surgery
| Arm | Type | Receives |
|---|---|---|
| VGN-R09b injection | Experimental | Genetic: VGN-R09b injectionDifferent levels of VGN-R09b will be injected into bilateral putamen by stereotactic surgery |
Who may qualify
- Ages
- 18 months to 8 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (6 listed)
- The child patient has to be ≥18 months old and < 8 years old, and a head circumference big enough for surgery as judged by investigator.
- Historical diagnosis of AADC deficiency with clinical symptoms consistency, AND with Molecular genetic confirmation of homozygous or compound heterozygous mutation point of IVS6+4A>T in DDC gene.
- With Plasma AADC activity less than or equal to 12 pmol/min/mL.
- Motor development at baseline <3 months (head fully uncontrollable at baseline）, and Failed to benefit from standard medical therapy (dopamine agonists, monoamine oxidase inhibitor or related form of Vitamin B6) at discretion of investigators.
- Parent(s)/legal guardian(s) with custody of subject must give their consent for subject to enroll in the study.
Key exclusion criteria (7 listed)
- Intracranial neoplasm or any structural brain abnormality or lesion (e.g., severe brain atrophy, white matter degenerative changes), which, in the opinion of the study investigators, would confer excessive risk and/or inadequate potential for benefit.
- 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.
- Severe coagulopathy, or need for ongoing anticoagulant therapy.
- clinically active infection or with severe infection within 12 weeks before screening (e.g. adenovirus or herpes virus, pneumonia, sepsis, central nervous system infection).
- Previous stereotactic neurosurgery, or any gene/cell 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 |
|---|---|---|
| VGN-R09b injectionTwo levels of VGN-R09b will be injected into bilateral putamen in dose-escalating phase, and one dose level will be injected in dose confirming phase | Genetic | VGN-R09b injection |
Primary outcome
Number of Adverse Events (AEs), Serious Adverse Events (SAEs)
Time frame: up to Week 52
Vital signs, physical examination, laboratory test will be monitored after drug injection
Number of subjects who achieved motor development milestones
Time frame: up to 24 months
Four milestones, including Head control, Sit independently, Stand/stepping with support, Walk with minimal assistant, would be assessed according to definition in Peabody Developmental Motor Scale 2nd edition (PDMS-2). Each milestone would be scored as 0, 1 or 2, and score 2 means achievement of the milestone.
7 secondary outcomes
Change in brain AADC activity
Time frame: up to 5 Years
Change in Cerebrospinal Fluid (CSF) neurotransmitter metabolite concentrations
Time frame: up to 5 Years
Change from baseline in motor function
Time frame: up to 5 Years
Change in number of Clinical symptoms
Time frame: up to 5 Years
Viral shedding
Time frame: up to 1 week
Immunogenicity after injection
Time frame: up to 26 weeks
Number of Adverse Events (AEs), Serious Adverse Events (SAEs) in Long-term follow-up
Time frame: up to 5 Years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 21 Apr 2026.
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An Early Clinical Trial to Evaluate VGN-R09b for Treatment of Aromatic L-amino Acid Decarboxylase (AADC) Deficiency.
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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.
yi Wang, MD principal investigator
Children's Hospital of Fudan University
jiwen Wang, MD principal investigator
Shanghai Children's Medical Center
yunhai song, MD principal investigator
Shanghai Children's Medical Center
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2/3 study testing VGN-R09b injection in people with Aromatic L-amino Acid Decarboxylase Deficiency, run by Shanghai Vitalgen BioPharma Co., Ltd. at 1 site in China.
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 6 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 21 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 1 site in China. 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 combined 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.
Phase 3 studies compare the treatment with the current standard treatment or a placebo in a large group, to confirm how well it works and watch for side effects.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
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?
Number of Adverse Events (AEs), Serious Adverse Events (SAEs) (time frame: up to Week 52). 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 21 Apr 2026.