Clinical Exploration of Adeno-associated Virus (AAV) Expressing Human Acid Alpha- Glucosidase (GAA) Gene Therapy for Patients With Infantile-onset Pompe Disease

Not Applicable

Recruiting

• Conditions: Infantile-onset Pompe Disease

• Registration Number: NCT05567627
• Lead Sponsor: Seventh Medical Center of PLA General Hospital

Brief 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 infantile-onset Pompe disease who are younger than 6 months old will be studied.

Detailed Description

Not available

Study Timeline

• Study Start: 2022-08-01
• Study First Submitted: 2022-09-25
• Study First Submitted QC: 2022-09-30
• Study First Posted: 2022-10-05
• Status Verified: 2023-10
• Last Update Submitted: 2023-10-30
• Last Update Posted: 2023-11-01
• Primary Completion: 2024-09
• Study Completion: 2025-09

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 6

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.

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Primary Outcome Measures

Name	Time	Method
Safety and tolerability over time	Infusion to the end of study, average 1 year	Frequency of adverse events (AEs), serious adverse events (SAEs), and changes from baseline in relevant clinical laboratory tests

Secondary Outcome Measures

Name	Time	Method
Changes from baseline creatine kinase (CK)	26 and 52 weeks
Changes from baseline Left Ventricular Mass (LVM)	26 and 52 weeks
Proportion of patients treated w/ GC301 who were alive and free of ventilator support at 12 months of age;	52 weeks

Trial Locations

Locations (1)

Bayi Children's Hospital, Seventh Medical Center, PLA general hospital; 🇨🇳 Beijing, Beijing, China