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

Phase 1

Recruiting

• Conditions: Pompe Disease Infantile-Onset
• Interventions: Genetic: GC301

• Registration Number: NCT05793307
• Lead Sponsor: GeneCradle Inc

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 First Submitted: 2023-03-20
• Study First Submitted QC: 2023-03-20
• Study First Posted: 2023-03-31
• Status Verified: 2023-06
• Study Start: 2023-06-02
• Last Update Submitted: 2023-06-04
• Last Update Posted: 2023-06-06
• Primary Completion: 2024-12
• Study Completion: 2024-12

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 16

Inclusion Criteria

• Age < 6 months
• Patient has diagnosis of infantile onset Pompe disease
• 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

• Left ventricle ejection fraction (LVEF) < 40%;
• Patient who has AAV9 neutralizing antibody titer ≥ 1:100；
• Patient who has received enzyme replacement therapy (ERT) more than twice;
• Patient who has respiratory dysfunction before enrollment, including the blood oxygen (O2) saturation level < 90%, or the partial pressure of carbon dioxide (PCO2) in venous blood > 55 mmHg, or PCO2 in arterial blood > 40 mmHg;
• Patient who has laboratory abnormalities of: creatinine > Upper Limit of Normal (ULN), hemoglobin < 90 g/L;
• Patient with congenital organ absence;
• Patient with a history of glucocorticoid allergy;
• Patient who is positive for human immunodeficiency (HIV) antibody, hepatitis B surface antigen, hepatitis C antibody, or treponema pallidum antibody;
• 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: SEQUENTIAL

Arm && Interventions

Group	Intervention	Description
Cohort 1	GC301	Single intravenous administration of GC301 at a dose of 8.0 x 10\^13 vector genomes per kilogram body weight
Cohort 2	GC301	Single intravenous administration of GC301 at a dose of 1.2 x 10\^14 vector genomes per kilogram body weight
Cohort 3	GC301	Single intravenous administration of GC301 at a dose of 1.8 x 10\^14 vector genomes per kilogram body weight

Primary Outcome Measures

Name	Time	Method
Safety and tolerability over time	52 weeks	Frequency of adverse events (AEs), serious adverse events (SAEs), and changes from baseline in relevant clinical laboratory tests
Proportion of patients treated with GC301 who are alive	52 weeks

Secondary Outcome Measures

Name	Time	Method
Proportion of patients treated w/ GC301 who were alive and free of ventilator support	52 weeks
Changes from baseline Left Ventricular Mass (LVM) annd LVMI (LVM index)	26 and 52 weeks
Changes from baseline creatine kinase (CK), CK-MB, Troponin I, B-Type Natriuretic Peptide (BNP)	26 and 52 weeks

Trial Locations

Locations (5)

Central South University, Xiangya Hospital; 🇨🇳 Changsha, China

Zhejiang University, School of Medicine, The Children's Hospital; 🇨🇳 Hangzhou, China

The First Affiliated Hospital of Zhengzhou University; 🇨🇳 Zhengzhou, China

Peking Union Medical College; 🇨🇳 Beijing, China

301 Chinese PLA General Hospital; 🇨🇳 Beijing, China