Pompe Disease Infantile-Onset
Conditions
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.
Interventions
GENETICGC301
GC301, is an adeno-associated virus 9 (AAV9) vector delivering a functional copy of the human GAA gene
Sponsors
GeneCradle Inc
Study design
Allocation
NON_RANDOMIZED
Intervention model
SEQUENTIAL
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
No minimum to 6 Months
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Safety and tolerability over time | 52 weeks | Frequency of adverse events (AEs), serious adverse events (SAEs), and changes from baseline in relevant clinical laboratory tests |
| Proportion of patients treated with GC301 who are alive | 52 weeks | — |
Secondary
| Measure | Time frame |
|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| Change in patient's motor function | 52 weeks | To evaluate the changes in patient's mobility and physical ability using Hammersmith Infant Neurological Examination (HINE) scores |
| Change from baseline acid alpha-glucosidase (GAA) enzyme in muscle and blood | 26 and 52 weeks | — |
| The viral load of adeno-associated virus (AAV) vector | At multiple time points from pre-dose through up to 1 years post-dose | To assess the change of AAV vector copy numbers within 52 weeks after administration. |
| Change from baseline glycogen content in muscle tissue | 26 and 52 weeks | — |
Countries
China
Outcome results
None listed