Pompe Disease (Late-onset)Phase 1/2NCT06391736
Evaluation of the Safety and Efficacy of Late-onset Pompe Disease Gene Therapy Drug
A Phase 1/2 study testing GC301 in people with Pompe Disease (Late-onset), run by GeneCradle Inc at 1 site 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. Patients diagnosed with late-onset Pompe disease （LOPD） who are ≥ 6 years old will be studied. Read more about this study
- Who is it for?
- Ages 6 years and older
- Conditions the study is for
- Pompe Disease (Late-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
- 33 participants
- Where
- 1 siteChina
- Study dates
- 19 Apr 2024to 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 6 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Age ≥ 6 years, males or females;
- Patient has a diagnosis of LOPD;
- Patient has upright FVC ≥ 30% of predicted normal value;
- A 6MWT ≥ 40 meters, assistive device allowed;
- 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
- Patient who has any history or concurrent clinical organic disease, including cardiovascular and liver diseases, respiratory system, nervous system disease, or any other condition that, in the opinion of the investigator, makes the subject unsuitable for participation in the study.
- Patient who requires invasive mechanical ventilation, or rely on noninvasive non-non-invasive assisted ventilation when sitting upright;
- Patient who is positive for human immunodeficiency (HIV) antibody, hepatitis B surface antigen, hepatitis C antibody, or treponema pallidum antibody;
- Patient with a history of glucocorticoid allergy;
- Patient who has a contraindication to study drug or to corticosteroids, or has demonstrated hypersensitivity to any of the components of the study drug;
- Patient who has AAV9 neutralizing antibody titer ≥ 1:100；
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- Patient who has participated in a previous gene therapy research trial;
- Pregnant or lactating female participants;
- Patients who have fertility plans within 6 months from screening to the end of the study and are unwilling to take effective physical contraceptive measures (such as a condom, intrauterine device, contraceptive ring, ligation, abstinence, etc.) for contraception (including the subject's partner);
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
China1 site, 1 recruiting
- Recruiting
Chinese PLA General Hospital
Beijing, 100853
Xinting Liu, 16601558283, lxting0531@163.com
Guang Yang
About this study
Official title: A Multi-centered, Single Arm, Open Labeled, Study to Evaluate the Safety, Tolerability, and Efficacy of an Adeno-associated Virus Vector Expressing the Human Acid Alpha-glucosidase (GAA) Transgene Intravenous Injection in Patients With Late-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 late-onset Pompe disease （LOPD） who are ≥ 6 years old will be studied.
- Conditions
- Pompe Disease (Late-onset)
- Being tested
- GC301
- Medical subject headings
- Glycogen Storage Disease Type II
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 |
|---|---|---|
| Low dosage group | Experimental | Single intravenous administration of GC301 at a dose of 3.0 x 10^13 vector genomes per kilogram body weight Receives: Genetic: GC301 |
| High dosage group | Experimental | Single intravenous administration of GC301 at a dose of 6.0 x 10^13 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.
Number of Participants With Adverse Events
Number of Participants with Adverse Events as a Measure of Safety and Tolerability
Measured: 52 weeks
Dose-limiting toxicity (DLT) rate based on protocol-specific adverse events (Phase 1)
Measured: within 30 days after treatment
Percent Predicted Upright Forced Vital Capacity (FVC)(Phase 2)
Change from baseline in percentage of predicted FVC measured by pulmonary function testing
Measured: 52 weeks
Secondary outcomes (8)
6-Minute Walk Test
Change from baseline in the distance walked in the 6 minute walk test (6MWT), which is a standardized assessment of how far an individual can walk on a hard, flat surface in a period of 6 minutes
Measured: 52 weeks
Maximum Inspiratory Pressure (MIP)
Change from baseline in MIP measured by pulmonary function testing
Measured: 52 weeks
Maximum Expiratory Pressure (MEP)
Change from baseline in MEP measured by pulmonary function testing
Measured: 52 weeks
Muscle Status Testing - Quick Motor Function Test (QMFT) Measure
Measurement of functional motor abilities using the Quick Motor Function Test (QMFT) will be performed and the results compared with baseline.
Measured: 52 weeks
Quality of life evaluation: 12-item short form health survey (SF-12) for LOPD participants
SF-12, a 12 item-questionnaire, used to assess health-related quality of life in participants aged >=18 years at screening/baseline. SF-12 consisted of 12 items, which were categorized into eight domains (subscales) of functioning and well-being: physical functioning, role-physical, role emotional, mental health, bodily pain, general health, vitality and social functioning, with each domain score ranged from 0 (poor health) to 100 (better health), higher scores indicated good health condition. These eight domains were further summarized into 2 summary scores, physical component summary (PCS) and mental component summary (MCS). The score range for each of these 2 summary scores was from 0 (poor health) to 100 (better health), higher scores indicated a better health-related quality of life.
Measured: 52 weeks
Time needed for non-invasive ventilatory support
Change from baseline in time duration that needed for non-invasive ventilatory support
Measured: 52 weeks
The viral load of adeno-associated virus (AAV) vector
To assess the change of AAV vector copy numbers within 52 weeks after administration.
Measured: 52 weeks
Occurrence of immune response against AAV capsid annd GAA transgene
Measured: 52 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Apr 2024
- Study start19 Apr 2024
- Primary completionDec 2026 (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 (Late-onset)Studies 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
- 33 participants (estimated)
Sponsor and investigators
- Lead sponsor
- GeneCradle Inc
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Guang Yang, Study chair, Chinese PLA General HospitalGuang Yang, Principal investigator, Chinese PLA General Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06391736
- Sponsor's protocol ID
- JLJY-GC301-LOPD-001
- Status last verified
- Jul 2025
- First submitted
- 25 Apr 2024
- 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, Tolerability, and Efficacy of an Adeno-associated Virus Vector Expressing the Human Acid Alpha-glucosidase (GAA) Transgene Intravenous Injection in Patients With Late-onset Pompe Disease
- ClinicalTrials.gov ID
- NCT06391736
- Acronym / sponsor ID
- JLJY-GC301-LOPD-001
- Conditions
- Pompe Disease (Late-onset)
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 33 participants (estimated)
- Lead sponsor
- GeneCradle IncIndustry (pharma, biotech, devices)
- Study start
- 19 Apr 2024 (actual)
- Primary completion
- Dec 2026 (estimated)
- Study completion
- Dec 2026 (estimated)
- First posted
- 30 Apr 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 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 late-onset Pompe disease （LOPD） who are ≥ 6 years old will be studied.
Study design
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Sequential
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Low dosage group | Experimental | Genetic: GC301Single intravenous administration of GC301 at a dose of 3.0 x 10^13 vector genomes per kilogram body weight |
| High dosage group | Experimental | Genetic: GC301Single intravenous administration of GC301 at a dose of 6.0 x 10^13 vector genomes per kilogram body weight |
Who may qualify
- Ages
- 6 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (5 listed)
- Age ≥ 6 years, males or females;
- Patient has a diagnosis of LOPD;
- Patient has upright FVC ≥ 30% of predicted normal value;
- A 6MWT ≥ 40 meters, assistive device allowed;
- 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 (9 listed)
- Patient who has any history or concurrent clinical organic disease, including cardiovascular and liver diseases, respiratory system, nervous system disease, or any other condition that, in the opinion of the investigator, makes the subject unsuitable for participation in the study.
- Patient who requires invasive mechanical ventilation, or rely on noninvasive non-non-invasive assisted ventilation when sitting upright;
- Patient who is positive for human immunodeficiency (HIV) antibody, hepatitis B surface antigen, hepatitis C antibody, or treponema pallidum antibody;
- Patient with a history of glucocorticoid allergy;
- Patient who has a contraindication to study drug or to corticosteroids, or has demonstrated hypersensitivity to any of the components of the study drug;
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 | High dosage group, Low dosage group |
Primary outcome
Number of Participants With Adverse Events
Time frame: 52 weeks
Number of Participants with Adverse Events as a Measure of Safety and Tolerability
Dose-limiting toxicity (DLT) rate based on protocol-specific adverse events (Phase 1)
Time frame: within 30 days after treatment
Percent Predicted Upright Forced Vital Capacity (FVC)(Phase 2)
Time frame: 52 weeks
Change from baseline in percentage of predicted FVC measured by pulmonary function testing
8 secondary outcomes
6-Minute Walk Test
Time frame: 52 weeks
Maximum Inspiratory Pressure (MIP)
Time frame: 52 weeks
Maximum Expiratory Pressure (MEP)
Time frame: 52 weeks
Muscle Status Testing - Quick Motor Function Test (QMFT) Measure
Time frame: 52 weeks
Quality of life evaluation: 12-item short form health survey (SF-12) for LOPD participants
Time frame: 52 weeks
Time needed for non-invasive ventilatory support
Time frame: 52 weeks
The viral load of adeno-associated virus (AAV) vector
Time frame: 52 weeks
Occurrence of immune response against AAV capsid annd GAA transgene
Time frame: 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.
Guang Yang study chair
Chinese PLA General Hospital
Guang Yang principal investigator
Chinese PLA General Hospital
1 site 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 (Late-onset), run by GeneCradle Inc 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 5 inclusion and 9 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: looking for participants now, 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 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 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?
Contact GeneCradle, Inc China (86-13501380583, ind@bj-genecradle.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of Participants With Adverse Events (time frame: 52 weeks). The study lists 3 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.