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

NCT05567627 | Unknown

• 1 other identifier: JLJY-GC301-IOPD-003
• Study Type: interventional
• Target: 6
• Locations: 1 country
• Sites: 1

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

Infantile-onset Pompe Disease

Outcome Measures

Primary Outcomes (1)

• Safety and tolerability over time

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

  Infusion to the end of study, average 1 year

Secondary Outcomes (3)

• Proportion of patients treated w/ GC301 who were alive and free of ventilator support at 12 months of age;

  52 weeks

• Changes from baseline Left Ventricular Mass (LVM)

  26 and 52 weeks

• Changes from baseline creatine kinase (CK)

  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

• Improvement in patient's motor function

  52 weeks

Study Arms (1)

Initial dose cohort

EXPERIMENTAL

1.2x10\^14 vg/kg of GC301 administered via intravenous infusion

Biological: Genetic: GC301

Interventions

Genetic: GC301 BIOLOGICAL

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

Initial dose cohort

Eligibility Criteria

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

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Seventh Medical Center of PLA General Hospital: lead
• GeneCradle Therapeutics, Inc: collaborator

Study Sites (1)

Bayi Children's Hospital, Seventh Medical Center, PLA general hospital

Beijing, Beijing Municipality, 100700, China

RECRUITING

Central Study Contacts

Zhichun Feng

CONTACT

+86(10) 66721786; zhichunfeng81@163.com

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 25, 2022
• First Posted: October 5, 2022
• Study Start: August 1, 2022
• Primary Completion: September 1, 2024
• Study Completion: September 1, 2025
• Last Updated: November 1, 2023

Record last verified: 2023-10

Locations

CN (1)