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

NCT06391736 | Recruiting Phase 1 DMC

• 1 other identifier: JLJY-GC301-LOPD-001
• Study Type: interventional
• Target: 33
• Locations: 1 country
• Sites: 1

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 late-onset Pompe disease （LOPD） who are ≥ 6 years old will be studied.

Conditions

Pompe Disease (Late-onset)

Outcome Measures

Primary Outcomes (3)

• Number of Participants With Adverse Events

  Number of Participants with Adverse Events as a Measure of Safety and Tolerability

  52 weeks

• Dose-limiting toxicity (DLT) rate based on protocol-specific adverse events (Phase 1)

  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

  52 weeks

Secondary Outcomes (8)

• 6-Minute Walk Test

  52 weeks

• Maximum Inspiratory Pressure (MIP)

  52 weeks

• Maximum Expiratory Pressure (MEP)

  52 weeks

• Muscle Status Testing - Quick Motor Function Test (QMFT) Measure

  52 weeks

• Quality of life evaluation: 12-item short form health survey (SF-12) for LOPD participants

  52 weeks

Other Outcomes (3)

• GAA enzymatic activity

  52 weeks

• GAA enzymatic activity

  52 weeks

• Glycogen content in muscle

  52 weeks

Study Arms (2)

Low dosage group

EXPERIMENTAL

Single intravenous administration of GC301 at a dose of 3.0 x 10\^13 vector genomes per kilogram body weight

Genetic: GC301

High dosage group

EXPERIMENTAL

Single intravenous administration of GC301 at a dose of 6.0 x 10\^13 vector genomes per kilogram body weight

Genetic: GC301

Interventions

GC301 GENETIC

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

High dosage group; Low dosage group

Eligibility Criteria

• Age: 6 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

You may not qualify if:

• 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);

Sponsors & Collaborators

• GeneCradle Inc: lead

Study Sites (1)

Chinese PLA General Hospital

Beijing, 100853, China

RECRUITING

MeSH Terms

Conditions

Glycogen Storage Disease Type II

Condition Hierarchy (Ancestors)

Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Guang Yang

  Chinese PLA General Hospital

  STUDY CHAIR

• Guang Yang

  Chinese PLA General Hospital

  PRINCIPAL INVESTIGATOR

Central Study Contacts

GeneCradle, Inc China

CONTACT

86-13501380583; ind@bj-genecradle.com

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SEQUENTIAL
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 25, 2024
• First Posted: April 30, 2024
• Study Start: April 19, 2024
• Primary Completion (Estimated): December 1, 2026
• Study Completion (Estimated): December 1, 2026
• Last Updated: July 3, 2025

Record last verified: 2025-07

Locations

CN (1)