Gene therapy for infantile-onset Pompe disease using a viral vector

Single Arm, Multicenter, Open and Dose-escalation Clinical Study on Safety, Tolerance, and Efficacy of GC301, an AAV-Delivered Gene Transfer Therapy in Patients With Infantile-onset Pompe Disease

This study is testing a new gene therapy for infants under 6 months with Pompe disease to see if it can safely help improve their condition.

Quick facts

• Phase: Not applicable
• Study type: Interventional
• Enrollment: 6 (estimated)
• Ages: N/A to 6 Months
• Sex: All
• Sponsor: Seventh Medical Center of PLA General Hospital (Academic / other)
• Locations: 1 site (Beijing, Beijing)
• Trial ID: NCT05567627 on ClinicalTrials.gov

What this trial studies

This clinical exploration evaluates the safety and effectiveness of a gene therapy using an adeno-associated virus vector that expresses human acid alpha-glucosidase (GAA) in patients diagnosed with infantile-onset Pompe disease. The study focuses on infants younger than 6 months old, aiming to provide a potential treatment option for this severe genetic disorder. Participants will receive the GC301 genetic intervention, and their responses will be monitored to assess the therapy's impact on their condition.

Who should consider this trial

Good fit: Ideal candidates for this study are infants diagnosed with infantile-onset Pompe disease who are no older than 6 months.

Not a fit: Patients with severe organ dysfunction or classified as Class IV based on the Modified Ross Heart Failure Classification may not benefit from this study.

Why it matters

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

How similar studies have performed: Other studies using gene therapy for genetic disorders have shown promising results, indicating potential success for this novel approach.

Eligibility criteria

Inclusion Criteria:

* 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;
* The patient must be no older than 6 months;
* The patient must be diagnosed with infantile-onset Pompe disease.

Exclusion Criteria:

* Class IV patient based on Modified Ross Heart Failure Classification for Children;
* Aspartate aminotransferase (AST), alanine aminotransferase (ALT) \> 3x upper limit of normal (ULN), alkaline phosphatase (ALP) \> 2x ULN (with the exception of liver abnormalities related to Pompe disease);
* Patient has severe organ dysfunction, such as liver and kidney failure (Liver failure: patients may have liver failure syndrome, including fatigue, severe gastrointestinal symptoms; clinical examination found prolonged prothrombin time, prothrombin activity less than 40%; Neuropsychiatric symptoms, such as restlessness, changes in personality and behavior, lethargy, coma, etc.; Toxic tympanic bowel, ascites, multiple organ dysfunction, etc.; hyperalbuminemia exceeding 171 μmol/L, hypoalbuminemia. Renal failure: creatinine exceeding 110 μmol/L, or glomerular filtration rate less than 100 mL/min), congenital/acquired encephalopathy, etc.;
* Patient with congenital organ absence;
* Patient with primary immunodeficiency;
* Patient who is positive for human immunodeficiency virus (HIV) antibody, hepatitis B surface antigen, hepatitis C antibody, or treponema pallidum antibody;
* Patient with a history of glucocorticoid allergy；
* 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.

Where this trial is running

Beijing, Beijing

• Bayi Children's Hospital, Seventh Medical Center, PLA general hospital — Beijing, Beijing, China (Recruiting)

Study contacts

• Study coordinator: Zhichun Feng

Conditions Infantile-onset Pompe Disease