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

Официальное название

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

Обзор

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.

Вмешательства

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

Первичные конечные точки

• Number of Participants With Adverse Events [Срок оценки: 52 weeks]
• Dose-limiting toxicity (DLT) rate based on protocol-specific adverse events (Phase 1) [Срок оценки: within 30 days after treatment]
• Percent Predicted Upright Forced Vital Capacity (FVC)(Phase 2) [Срок оценки: 52 weeks]

Вторичные конечные точки (8)

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

Критерии участия

Критерии включения

• 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.

Критерии исключения

• 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);

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Нет

Дизайн исследования

Распределение

Нерандомизированное

Модель

Последовательный дизайн

Маскирование

Открытое

Основная цель

Лечение

Центры проведения

Китай · 1 центр

• Chinese PLA General Hospital — Пекин

Идентификаторы

NCT: NCT06391736 · JLJY-GC301-LOPD-001

Первоисточники (государственные реестры)

• ClinicalTrials.gov (NIH, США)

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