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

GeneCradle

Status and phase: Active, not recruiting; Phase 2; Phase 1

Conditions: Pompe Disease Infantile-Onset

Treatments: Genetic: GC301

Study type: Interventional

Funder types: Industry

Identifiers

NCT05793307

JLJY-GC301-IOPD-001

Details and patient eligibility

About

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.

Enrollment: 16 estimated patients

Sex: All

Ages: Under 6 months old

Volunteers: No Healthy Volunteers

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.

Trial design

Primary purpose: Treatment

Allocation: Non-Randomized

Interventional model: Sequential Assignment

Masking: None (Open label)

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16 participants in 3 patient groups

Cohort 1

Experimental group

Description:

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

Treatment:

Genetic: GC301

Cohort 2

Experimental group

Description:

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

Treatment:

Genetic: GC301

Cohort 3

Experimental group

Description:

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

Treatment:

Genetic: GC301