ClinicalTrials.gov record NCT06391736

Evaluation of the Safety and Efficacy of Late-onset Pompe Disease Gene Therapy Drug

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Jul 27, 2026

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

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeInterventionalA study in which researchers assign participants to one or more interventions, such as a drug, procedure, device, behavioural programme or other approach, to measure their effects.
PhasePhase 1/2A study that combines safety and dose-finding (phase 1) with a first look at whether the treatment has an effect (phase 2).
Age6 years old and older
SexAll
LocationChina
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This Phase 1/2 study evaluates GC301, an AAV9 gene therapy delivering the GAA gene, in people with late-onset Pompe disease aged ≥6 years. Participants receive a single intravenous dose at one of two dose levels and are followed for safety and measures of breathing and motor function. Main outcomes include adverse events, dose-limiting toxicity (early), and change in percent predicted upright FVC at 52 weeks.

What it is studying. The study is testing the safety, tolerability, and activity of a one-time intravenous infusion of GC301 (an AAV9 vector carrying a functional GAA gene) in people with late-onset Pompe disease. It will record adverse events and dose-limiting toxicities, and measure lung function, walking distance, respiratory muscle pressures, motor function, quality-of-life scores, viral vector levels, and immune responses over follow-up.

What the researchers hope to learn. To evaluate safety and tolerability of GC301; to measure dose-limiting toxicity; to assess change from baseline in percent predicted upright FVC at 52 weeks; and to collect data on walking distance (6MWT), respiratory pressures (MIP/MEP), motor function (QMFT), quality of life (SF-12 for adults), AAV vector levels, and immune responses against the vector and transgene.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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.

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Genetic
  • GC301

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

Inclusion criteria

  • 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.

Exclusion criteria

  • 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；
  • 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);

Study description and what participation involves

The registry record has no detailed description beyond the summary above.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Participants receive a single intravenous infusion of the study gene therapy (GC301) at one of two dose levels and are followed for safety and effects for up to 52 weeks. Follow‑up includes breathing tests (upright FVC, MIP/MEP), the 6‑minute walk test, muscle function testing (QMFT), quality‑of‑life questionnaire (SF‑12 for those ≥18), and laboratory tests to measure the viral vector and immune responses. Study staff will monitor and record adverse events throughout the study. Specific visit number and schedule are not provided in the registry record.

How the study is structured. Open-label, non-randomized Phase 1/2 study with two sequential dose groups (low and high). Each participant receives a single IV infusion of GC301 and is followed regularly (including clinical visits and tests) for safety and functional assessments up to at least 52 weeks. There is no placebo and neither participants nor investigators are masked to treatment.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an early-phase study, mainly about safety and dose. What is already known about this treatment?
  • The listed sites are in China. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on Pompe disease

Clinical trials32 trials listed for Pompe diseaseEvery trial the registry lists for Pompe disease, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in Pompe disease researchLatest monthly update: September 2026. Includes: Antibody effects. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Apr 19, 2024
Primary completion
December 2026 (estimated)
Study completion
December 2026 (estimated)
Target enrollment
33 participants (estimated)
Last updated on registry
Jul 3, 2025
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
GeneCradle Inc

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (1)

Terms used on this page · explanations by MedicalUpdates.ai

FVC
A breathing test that measures the total amount of air a person can blow out after a full breath in. It is often given as a percentage of what is expected for a person's age and size.
6MWT
A test of how far a person can walk on a flat surface in six minutes. It is used to measure stamina and to track change over time.
legal guardian
A person who is legally allowed to make decisions, including consent to research, on behalf of someone who cannot consent for themselves.
informed consent
The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
glucocorticoid
Steroid medicines, such as prednisone, that reduce inflammation. Studies often require a stable dose at entry or measure whether the study treatment allows the dose to be reduced.
contraindication
A reason a particular test or treatment should not be used for a person, for example a metal implant that rules out an MRI scan.
study drug
A treatment that is being tested and has not been approved for this use. It may be approved for a different condition. Being studied does not mean it works or is available outside the study.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

← Back to clinical trials