Pompe Disease Infantile-OnsetPhase 1/2NCT05793307
Evaluation of the Safety and Efficacy of Infantile-onset Pompe Disease Gene Therapy Drug
A Phase 1/2 study testing GC301 in people with Pompe Disease Infantile-Onset, run by GeneCradle Inc at 5 sites in China.
Trial summary
This study is being conducted to evaluate the safety and effectiveness of GC301 adeno-associated virus vector expressing codon-optimized human acid alpha-glucosidase (GAA) as potential gene therapy for Pompe disease. Read more about this study
- Who is it for?
- Ages Up to 6 months
- Conditions the study is for
- Pompe Disease Infantile-Onset
- What is being tested?
- GC301
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 16 participants
- Where
- 5 sitesChina
- Study dates
- 2 Jun 2023to Dec 2026
- Phase
- Phase 1/2
- 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 Up to 6 months
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- Age < 6 months
- Patient has diagnosis of infantile onset Pompe disease
- The patient's legal guardian(s) must be able to understand the purpose and risks of the study and voluntarily provide signed and dated informed consent prior to any study-related procedures being performed.
Who cannot join
- Left ventricle ejection fraction (LVEF) < 40%;
- Patient who has AAV9 neutralizing antibody titer ≥ 1:100；
- Patient who has received enzyme replacement therapy (ERT) more than twice;
- Patient who has respiratory dysfunction before enrollment, including the blood oxygen (O2) saturation level < 90%, or the partial pressure of carbon dioxide (PCO2) in venous blood > 55 mmHg, or PCO2 in arterial blood > 40 mmHg;
- Patient who has laboratory abnormalities of: creatinine > Upper Limit of Normal (ULN), hemoglobin < 90 g/L;
- Patient with congenital organ absence;
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- Patient with a history of glucocorticoid allergy;
- Patient who is positive for human immunodeficiency (HIV) antibody, hepatitis B surface antigen, hepatitis C antibody, or treponema pallidum antibody;
- Patient who has participated in a previous gene therapy research trial;
- Patient who has any concurrent clinically significant major disease or any other condition that, in the opinion of the investigator, makes the subject unsuitable for participation in the study.
Trial locations and contacts
5 sites in 1 country.
5 sites in 1 country
China5 sites
Peking Union Medical College
Beijing, 100005
301 Chinese PLA General Hospital
Beijing
Central South University, Xiangya Hospital
Changsha
Zhejiang University, School of Medicine, The Children's Hospital
Hangzhou
The First Affiliated Hospital of Zhengzhou University
Zhengzhou
About this study
Official title: A Multi-centered, Single Arm, Open Labeled, Study to Evaluate the Safety and Efficacy of an Adeno-associated Virus Vector Expressing the Human Acid Alpha-glucosidase (GAA) Transgene Intravenous Injection in Patients With Infantile-onset Pompe Disease
This study is being conducted to evaluate the safety and effectiveness of GC301 adeno-associated virus vector expressing codon-optimized human acid alpha-glucosidase (GAA) as potential gene therapy for Pompe disease. Patients diagnosed with infantile-onset Pompe disease who are younger than 6 months old will be studied.
- Conditions
- Pompe Disease Infantile-Onset
- Being tested
- GC301
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
GC301Genetic
GC301, is an adeno-associated virus 9 (AAV9) vector delivering a functional copy of the human GAA gene
| Study group | Role | What they receive |
|---|---|---|
| Cohort 1 | Experimental | Single intravenous administration of GC301 at a dose of 8.0 x 10^13 vector genomes per kilogram body weight Receives: Genetic: GC301 |
| Cohort 2 | Experimental | Single intravenous administration of GC301 at a dose of 1.2 x 10^14 vector genomes per kilogram body weight Receives: Genetic: GC301 |
| Cohort 3 | Experimental | Single intravenous administration of GC301 at a dose of 1.8 x 10^14 vector genomes per kilogram body weight Receives: Genetic: GC301 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Safety and tolerability over time
Frequency of adverse events (AEs), serious adverse events (SAEs), and changes from baseline in relevant clinical laboratory tests
Measured: 52 weeks
Proportion of patients treated with GC301 who are alive
Measured: 52 weeks
Secondary outcomes (3)
Proportion of patients treated w/ GC301 who were alive and free of ventilator support
Measured: 52 weeks
Changes from baseline Left Ventricular Mass (LVM) annd LVMI (LVM index)
Measured: 26 and 52 weeks
Changes from baseline creatine kinase (CK), CK-MB, Troponin I, B-Type Natriuretic Peptide (BNP)
Measured: 26 and 52 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted31 Mar 2023
- Study start2 Jun 2023
- Primary completionDec 2025 (estimated)
- Study completionDec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Pompe Disease Infantile-OnsetStudies 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 1/2
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Sequential
- Masking
- None (open label)
- Enrolment
- 16 participants (estimated)
Sponsor and investigators
- Lead sponsor
- GeneCradle Inc
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05793307
- Sponsor's protocol ID
- JLJY-GC301-IOPD-001
- Status last verified
- Jul 2025
- First submitted
- 20 Mar 2023
- Last updated
- 3 Jul 2025
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 3 Jul 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Multi-centered, Single Arm, Open Labeled, Study to Evaluate the Safety and Efficacy of an Adeno-associated Virus Vector Expressing the Human Acid Alpha-glucosidase (GAA) Transgene Intravenous Injection in Patients With Infantile-onset Pompe Disease
- ClinicalTrials.gov ID
- NCT05793307
- Acronym / sponsor ID
- JLJY-GC301-IOPD-001
- Conditions
- Pompe Disease Infantile-Onset
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 16 participants (estimated)
- Lead sponsor
- GeneCradle IncIndustry (pharma, biotech, devices)
- Study start
- 2 Jun 2023 (actual)
- Primary completion
- Dec 2025 (estimated)
- Study completion
- Dec 2026 (estimated)
- First posted
- 31 Mar 2023 (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 study is being conducted to evaluate the safety and effectiveness of GC301 adeno-associated virus vector expressing codon-optimized human acid alpha-glucosidase (GAA) as potential gene therapy for Pompe disease. Patients diagnosed with infantile-onset Pompe disease who are younger than 6 months old will be studied.
Study design
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Sequential
- Masking
- None (open label)
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Cohort 1 | Experimental | Genetic: GC301Single intravenous administration of GC301 at a dose of 8.0 x 10^13 vector genomes per kilogram body weight |
| Cohort 2 | Experimental | Genetic: GC301Single intravenous administration of GC301 at a dose of 1.2 x 10^14 vector genomes per kilogram body weight |
| Cohort 3 | Experimental | Genetic: GC301Single intravenous administration of GC301 at a dose of 1.8 x 10^14 vector genomes per kilogram body weight |
Who may qualify
- Ages
- Up to 6 months
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (3 listed)
- Age < 6 months
- Patient has diagnosis of infantile onset Pompe disease
- The patient's legal guardian(s) must be able to understand the purpose and risks of the study and voluntarily provide signed and dated informed consent prior to any study-related procedures being performed.
Key exclusion criteria (10 listed)
- Left ventricle ejection fraction (LVEF) < 40%;
- Patient who has AAV9 neutralizing antibody titer ≥ 1:100；
- Patient who has received enzyme replacement therapy (ERT) more than twice;
- Patient who has respiratory dysfunction before enrollment, including the blood oxygen (O2) saturation level < 90%, or the partial pressure of carbon dioxide (PCO2) in venous blood > 55 mmHg, or PCO2 in arterial blood > 40 mmHg;
- Patient who has laboratory abnormalities of: creatinine > Upper Limit of Normal (ULN), hemoglobin < 90 g/L;
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 |
|---|---|---|
| GC301GC301, is an adeno-associated virus 9 (AAV9) vector delivering a functional copy of the human GAA gene | Genetic | Cohort 1, Cohort 2, Cohort 3 |
Primary outcome
Safety and tolerability over time
Time frame: 52 weeks
Frequency of adverse events (AEs), serious adverse events (SAEs), and changes from baseline in relevant clinical laboratory tests
Proportion of patients treated with GC301 who are alive
Time frame: 52 weeks
3 secondary outcomes
Proportion of patients treated w/ GC301 who were alive and free of ventilator support
Time frame: 52 weeks
Changes from baseline Left Ventricular Mass (LVM) annd LVMI (LVM index)
Time frame: 26 and 52 weeks
Changes from baseline creatine kinase (CK), CK-MB, Troponin I, B-Type Natriuretic Peptide (BNP)
Time frame: 26 and 52 weeks
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 3 Jul 2025.
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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.
5 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1/2 study testing GC301 in people with Pompe Disease Infantile-Onset, run by GeneCradle Inc at 5 sites 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 3 inclusion and 10 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 3 Jul 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 5 sites 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 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
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?
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?
Safety and tolerability over time (time frame: 52 weeks). 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 3 Jul 2025.