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

Pompe Disease Infantile-Onset Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05793307
• Other study ID #: JLJY-GC301-IOPD-001
• Status: Recruiting
• Phase: Phase 1/Phase 2
• Start date: June 2, 2023
• Est. completion date: December 2024

Study information

• Verified date: June 2023
• Source: GeneCradle Inc
• Contact: GeneCradle, Inc. China
• Phone: 86-13501380583
• Email: ind[@]bj-genecradle.com
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 16
• Est. completion date: December 2024
• Est. primary completion date: December 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A to 6 Months

Eligibility

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.

Related Conditions & MeSH terms

• Glycogen Storage Disease Type II
• Pompe Disease Infantile-Onset

Intervention

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

Locations

Country	Name	City	State
China	301 Chinese PLA General Hospital	Beijing
China	Peking Union Medical College	Beijing
China	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

Sponsors (1)

Lead Sponsor	Collaborator
GeneCradle Inc

Country where clinical trial is conducted

China, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Other	Change from baseline glycogen content in muscle tissue		26 and 52 weeks
Other	Change from baseline acid alpha-glucosidase (GAA) enzyme in muscle and blood		26 and 52 weeks
Other	Change in patient's motor function	To evaluate the changes in patient's mobility and physical ability using Hammersmith Infant Neurological Examination (HINE) scores	52 weeks
Other	The viral load of adeno-associated virus (AAV) vector	To assess the change of AAV vector copy numbers within 52 weeks after administration.	At multiple time points from pre-dose through up to 1 years post-dose
Primary	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
Primary	Proportion of patients treated with GC301 who are alive		52 weeks
Secondary	Proportion of patients treated w/ GC301 who were alive and free of ventilator support		52 weeks
Secondary	Changes from baseline Left Ventricular Mass (LVM) annd LVMI (LVM index)		26 and 52 weeks
Secondary	Changes from baseline creatine kinase (CK), CK-MB, Troponin I, B-Type Natriuretic Peptide (BNP)		26 and 52 weeks