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 late-onset Pompe disease (LOPD) who are ≥ 6 years old will be studied.
Study Type
INTERVENTIONAL
Allocation
NON_RANDOMIZED
Purpose
TREATMENT
Masking
NONE
Enrollment
33
GC301, is an adeno-associated virus 9 (AAV9) vector delivering a functional copy of the human GAA gene
Chinese PLA General Hospital
Beijing, China
RECRUITINGNumber of Participants With Adverse Events
Number of Participants with Adverse Events as a Measure of Safety and Tolerability
Time frame: 52 weeks
Dose-limiting toxicity (DLT) rate based on protocol-specific adverse events (Phase 1)
Time frame: within 30 days after treatment
Percent Predicted Upright Forced Vital Capacity (FVC)(Phase 2)
Change from baseline in percentage of predicted FVC measured by pulmonary function testing
Time frame: 52 weeks
6-Minute Walk Test
Change from baseline in the distance walked in the 6 minute walk test (6MWT), which is a standardized assessment of how far an individual can walk on a hard, flat surface in a period of 6 minutes
Time frame: 52 weeks
Maximum Inspiratory Pressure (MIP)
Change from baseline in MIP measured by pulmonary function testing
Time frame: 52 weeks
Maximum Expiratory Pressure (MEP)
Change from baseline in MEP measured by pulmonary function testing
Time frame: 52 weeks
Muscle Status Testing - Quick Motor Function Test (QMFT) Measure
Measurement of functional motor abilities using the Quick Motor Function Test (QMFT) will be performed and the results compared with baseline.
Time frame: 52 weeks
Quality of life evaluation: 12-item short form health survey (SF-12) for LOPD participants
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SF-12, a 12 item-questionnaire, used to assess health-related quality of life in participants aged \>=18 years at screening/baseline. SF-12 consisted of 12 items, which were categorized into eight domains (subscales) of functioning and well-being: physical functioning, role-physical, role emotional, mental health, bodily pain, general health, vitality and social functioning, with each domain score ranged from 0 (poor health) to 100 (better health), higher scores indicated good health condition. These eight domains were further summarized into 2 summary scores, physical component summary (PCS) and mental component summary (MCS). The score range for each of these 2 summary scores was from 0 (poor health) to 100 (better health), higher scores indicated a better health-related quality of life.
Time frame: 52 weeks
Time needed for non-invasive ventilatory support
Change from baseline in time duration that needed for non-invasive ventilatory support
Time frame: 52 weeks
The viral load of adeno-associated virus (AAV) vector
To assess the change of AAV vector copy numbers within 52 weeks after administration.
Time frame: 52 weeks
Occurrence of immune response against AAV capsid annd GAA transgene
Time frame: 52 weeks