Gene therapy for late-onset Pompe disease

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 testing a new gene therapy called GC301 to see if it can improve breathing and overall health in kids and adults with late-onset Pompe disease.

Quick facts

• Phase: Phase1; Phase2
• Study type: Interventional
• Enrollment: 33 (estimated)
• Ages: 6 Years and up
• Sex: All
• Sponsor: GeneCradle Inc (Industry-sponsored)
• Locations: 1 site (Beijing)
• Trial ID: NCT06391736 on ClinicalTrials.gov

What this trial studies

This study evaluates the safety and effectiveness of a gene therapy drug called GC301, which uses an adeno-associated virus vector to deliver a codon-optimized version of the human acid alpha-glucosidase gene. It targets patients diagnosed with late-onset Pompe disease who are at least 6 years old. The study will assess the drug's impact on patients' respiratory function and overall health. Participants must meet specific criteria, including certain levels of lung function and mobility.

Who should consider this trial

Good fit: Ideal candidates are individuals aged 6 years and older diagnosed with late-onset Pompe disease who have sufficient lung function and mobility.

Not a fit: Patients with severe respiratory issues requiring invasive ventilation or those with concurrent serious health conditions may not benefit from this study.

Why it matters

Potential benefit: If successful, this gene therapy could significantly improve the quality of life and health outcomes for patients with late-onset Pompe disease.

How similar studies have performed: Other studies have shown promise with gene therapy approaches for genetic disorders, suggesting potential for success in this area.

Eligibility criteria

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);

Where this trial is running

Beijing

• Chinese PLA General Hospital — Beijing, China (Recruiting)

Study contacts

• Principal investigator: Guang Yang — Chinese PLA General Hospital
• Study coordinator: GeneCradle, Inc China

Conditions Pompe Disease