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

NCT05793307 | Active Not Recruiting Phase 1 DMC

• 1 other identifier: JLJY-GC301-IOPD-001
• Study Type: interventional
• Target: 16
• Locations: 1 country
• Sites: 5

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.

Conditions

Pompe Disease Infantile-Onset

Outcome Measures

Primary Outcomes (2)

• Safety and tolerability over time

  Frequency of adverse events (AEs), serious adverse events (SAEs), and changes from baseline in relevant clinical laboratory tests

  52 weeks

• Proportion of patients treated with GC301 who are alive

  52 weeks

Secondary Outcomes (3)

• 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

Other Outcomes (4)

• Change from baseline glycogen content in muscle tissue

  26 and 52 weeks

• Change from baseline acid alpha-glucosidase (GAA) enzyme in muscle and blood

  26 and 52 weeks

• Change in patient's motor function

  52 weeks

Study Arms (3)

Cohort 1

EXPERIMENTAL

Single intravenous administration of GC301 at a dose of 8.0 x 10\^13 vector genomes per kilogram body weight

Genetic: GC301

Cohort 2

EXPERIMENTAL

Single intravenous administration of GC301 at a dose of 1.2 x 10\^14 vector genomes per kilogram body weight

Genetic: GC301

Cohort 3

EXPERIMENTAL

Single intravenous administration of GC301 at a dose of 1.8 x 10\^14 vector genomes per kilogram body weight

Genetic: GC301

Interventions

GC301 GENETIC

GC301, is an adeno-associated virus 9 (AAV9) vector delivering a functional copy of the human GAA gene

Cohort 1; Cohort 2; Cohort 3

Eligibility Criteria

• Age: Up to 6 Months
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• GeneCradle Inc: lead

Study Sites (5)

Peking Union Medical College

Beijing, 100005, China

Location

301 Chinese PLA General Hospital

Beijing, China

Location

Central South University, Xiangya Hospital

Changsha, China

Location

Zhejiang University, School of Medicine, The Children's Hospital

Hangzhou, China

Location

The First Affiliated Hospital of Zhengzhou University

Zhengzhou, China

Location

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SEQUENTIAL
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 20, 2023
• First Posted: March 31, 2023
• Study Start: June 2, 2023
• Primary Completion: December 1, 2025
• Study Completion (Estimated): December 1, 2026
• Last Updated: July 3, 2025

Record last verified: 2025-07

Locations

CN (5)