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Recruiting NCT06391736

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

Phase I / Phase II Interventional Pompe Disease (Late-onset)

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: GC301.
Who it may be relevant to
Registry conditions: Pompe Disease (Late-onset). Basic parameters: from 6 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
China
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Official title

A Multi-centered, Single Arm, Open Labeled, Study to Evaluate the Safety, Tolerability, and Efficacy of an Adeno-associated Virus Vector Expressing the Human Acid Alpha-glucosidase (GAA) Transgene Intravenous Injection in Patients With Late-onset Pompe Disease

Overview

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.

Interventions

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

Primary outcome measures

  • Number of Participants With Adverse Events [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) [Time frame: 52 weeks]
Secondary outcome measures (8)
  • 6-Minute Walk Test [Time frame: 52 weeks]
  • Maximum Inspiratory Pressure (MIP) [Time frame: 52 weeks]
  • Maximum Expiratory Pressure (MEP) [Time frame: 52 weeks]
  • Muscle Status Testing - Quick Motor Function Test (QMFT) Measure [Time frame: 52 weeks]
  • Quality of life evaluation: 12-item short form health survey (SF-12) for LOPD participants [Time frame: 52 weeks]
  • Time needed for non-invasive ventilatory support [Time frame: 52 weeks]
  • The viral load of adeno-associated virus (AAV) vector [Time frame: 52 weeks]
  • Occurrence of immune response against AAV capsid annd GAA transgene [Time frame: 52 weeks]

Eligibility criteria

Inclusion criteria

  • Age ≥ 6 years, males or females;
  • Patient has a diagnosis of LOPD;
  • Patient has upright FVC ≥ 30% of predicted normal value;
  • A 6MWT ≥ 40 meters, assistive device allowed;
  • 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

  • Patient who has any history or concurrent clinical organic disease, including cardiovascular and liver diseases, respiratory system, nervous system disease, or any other condition that, in the opinion of the investigator, makes the subject unsuitable for participation in the study.
  • Patient who requires invasive mechanical ventilation, or rely on noninvasive non-non-invasive assisted ventilation when sitting upright;
  • Patient who is positive for human immunodeficiency (HIV) antibody, hepatitis B surface antigen, hepatitis C antibody, or treponema pallidum antibody;
  • Patient with a history of glucocorticoid allergy;
  • Patient who has a contraindication to study drug or to corticosteroids, or has demonstrated hypersensitivity to any of the components of the study drug;
  • Patient who has AAV9 neutralizing antibody titer ≥ 1:100；
  • Patient who has participated in a previous gene therapy research trial;
  • Pregnant or lactating female participants;
  • Patients who have fertility plans within 6 months from screening to the end of the study and are unwilling to take effective physical contraceptive measures (such as a condom, intrauterine device, contraceptive ring, ligation, abstinence, etc.) for contraception (including the subject's partner);

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Allocation
Non-randomized
Model
Sequential
Masking
Open label
Primary purpose
Treatment

Study locations

China · 1 center
  • Chinese PLA General Hospital — Beijing

Identifiers

NCT: NCT06391736 · JLJY-GC301-LOPD-001

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗