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RecruitingNCT05567627Updated Nov 1, 2023

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

An interventional study of Genetic: GC301 in Infantile-onset Pompe Disease, sponsored by Seventh Medical Center of PLA General Hospital. Recruiting at 1 site in China. Open to participants aged Up to 6 Months. Per ClinicalTrials.gov, last updated 2023-11-01.

Sponsored by Seventh Medical Center of PLA General Hospital · Not applicable, Interventional, and Treatment

From the registry’s dates

  • Primary completion was expected by Sep 2024, 2 years 1 month ago, but the record still lists the study as recruiting.
  • Started Aug 2022; still recruiting 4 years 2 months later.
Phase
Not applicable
Study type
Interventional
Enrollment
6
Allocation
Non-randomized
Ages
Up to 6 Months
Sex
All
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Study 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.

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Conditions studied

  • Infantile-onset Pompe Disease
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In context

Glycogen Storage Disease Type II

151 studies on the registry are indexed under Glycogen Storage Disease Type II; 30 are open to participants now.

This study's planned enrollment of 6 is below the median of 17 across 81 interventional studies indexed under Glycogen Storage Disease Type II.

Browse Glycogen Storage Disease Type II studies →

Lead sponsor

Seventh Medical Center of PLA General Hospital is the lead sponsor of 5 studies on the registry; 4 are open to participants now.

Counted across the registry records on this site, refreshed daily.

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Who can participate

Ages eligible
Up to 6 Months
Sexes eligible
All
Accepts healthy volunteers
No

Inclusion criteria

  • 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.

Exclusion criteria

Exclusion Criteria:

  • 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.
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Study design

Phase
Not applicable
Primary purpose
Treatment
Allocation
Non-randomized
Intervention model
Single group
Masking
None (open label)
Enrollment
6 participants (estimated)

Study arms

  • Experimental
    Initial dose cohort

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

    Biological: Genetic: GC301

Interventions

  • BiologicalGenetic: GC301

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

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What researchers measure

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

    Time frame: Infusion to the end of study, average 1 year

Secondary outcomes

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

    Time frame: 52 weeks

  2. Changes from baseline Left Ventricular Mass (LVM)

    Time frame: 26 and 52 weeks

  3. Changes from baseline creatine kinase (CK)

    Time frame: 26 and 52 weeks

Other outcomes

  1. Change from baseline glycogen content in muscle tissue

    Time frame: 26 and 52 weeks

  2. Change from baseline acid alpha-glucosidase (GAA) enzyme in muscle and blood

    Time frame: 26 and 52 weeks

  3. Improvement in patient's motor function

    To evaluate the changes in patient's mobility and physical ability using Hammersmith Infant Neurological Examination (HINE) scores

    Time frame: 52 weeks

  4. 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: At multiple time points from pre-dose through up to 1 years post-dose

07

Study locations

1 of 1 sites recruiting
  • Bayi Children's Hospital, Seventh Medical Center, PLA general hospital
    Beijing, Beijing 100700, China
    Recruiting
08

Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Nov 1, 2023, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
09

Registry details

Key details

Study ID
NCT05567627
Lead sponsor
Seventh Medical Center of PLA General Hospital
Collaborators
GeneCradle Therapeutics, Inc
Responsible party
Sponsor
First posted
Oct 5, 2022
Start date
Aug 1, 2022
Primary completion
Sep 2024 (estimated)
Completion
Sep 2025 (estimated)
Last update
Nov 1, 2023

Study contacts

Zhichun Feng
Contact
zhichunfeng81@163.com
+86(10) 66721786

Oversight

FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

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