Gene therapy for infantile-onset Pompe disease

A Multi-centered, Single Arm, Open Labeled, Study to Evaluate the Safety and Efficacy of an Adeno-associated Virus Vector Expressing the Human Acid Alpha-glucosidase (GAA) Transgene Intravenous Injection in Patients With Infantile-onset Pompe Disease

This study is testing a new gene therapy for infants under 6 months old with infantile-onset Pompe disease to see if it can safely help them.

Quick facts

• Phase: PHASE1; PHASE2
• Study type: Interventional
• Enrollment: 16 (estimated)
• Ages: N/A to 6 Months
• Sex: All
• Sponsor: GeneCradle Inc (industry)
• Locations: 5 sites (Beijing and 4 other locations)
• Trial ID: NCT05793307 on ClinicalTrials.gov

What this trial studies

This clinical trial evaluates the safety and efficacy of a gene therapy drug called GC301, which uses an adeno-associated virus vector to deliver a codon-optimized version of the human acid alpha-glucosidase enzyme. The study focuses on infants diagnosed with infantile-onset Pompe disease who are under 6 months old. Participants will receive the treatment and be monitored for safety and effectiveness. The trial aims to provide a new therapeutic option for this severe genetic disorder.

Who should consider this trial

Good fit: Ideal candidates for this study are infants diagnosed with infantile-onset Pompe disease who are younger than 6 months.

Not a fit: Patients with severe respiratory dysfunction or significant cardiac issues 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 Pompe disease.

How similar studies have performed: While gene therapy approaches for other genetic disorders have shown promise, this specific application for infantile-onset Pompe disease is novel and untested.

Eligibility criteria

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.

Where this trial is running

Beijing and 4 other locations

• Peking Union Medical College — Beijing, China (RECRUITING)
• 301 Chinese PLA General Hospital — Beijing, China (NOT_YET_RECRUITING)
• Central South University, Xiangya Hospital — Changsha, China (NOT_YET_RECRUITING)
• Zhejiang University, School of Medicine, The Children's Hospital — Hangzhou, China (RECRUITING)
• The First Affiliated Hospital of Zhengzhou University — Zhengzhou, China (NOT_YET_RECRUITING)

Study contacts

• Study coordinator: GeneCradle, Inc. China

Conditions: Pompe Disease Infantile-Onset