A Phase 1 Study of the Safety of AAV2/8-LSPhGAA (ACTUS-101) in Late-onset Pompe Disease
试验速览
- 阶段
- 1 期
- 状态
- 已完成
- 发起方
- AskBio Inc
- 入组人数
- 7
- 试验地点
- 1
- 主要终点
- Incidence of patient reported Serious Adverse Events (SAEs) (safety and tolerability)
研究概览
简要总结
Open-label, ascending dose trial of ACTUS-101 administered intravenously.
详细描述
This study will be a prospective, open-label trial designed to objectively assess the safety and bioactivity of ACTUS-101 in subjects diagnosed with Pompe disease, which is caused by a defect in acid α-glucosidase (GAA) gene. ACTUS-101 is intended to enable expression of a functional copy of the GAA gene in subject's hepatocytes.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Sequential
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Diagnosis of Pompe disease by blood or skin fibroblast GAA assay and two pathogenic variants in the GAA gene,
- •Age: Greater than or equal to 18 years at enrollment.
- •Subjects are capable of giving written informed consent.
- •Able to walk at least 100 meters on the 6MWT (with assistive devices permitted).
- •FVC within the range of 30% to less 90% (inclusive) of predicted in the upright position.
- •Subjects with a confirmed diagnosis of LOPD who have been treated with ERT for at least 104 weeks (inclusive) immediately preceding screening and receiving a stable dose of ERT for the 52-week period immediately preceding dosing.
排除标准
- •Invasive ventilation required or noninvasive ventilation required while awake and upright.
- •FVC <20% of predicted (supine).
- •Received any live vaccination 2 months prior to study Day
- •Pregnant or nursing mothers.
- •Serology consistent with exposure to HIV, or serology consistent with active hepatitis A, B or C infection. Any active liver disease.
- •Active infection based upon clinical symptoms.
- •Having started respiratory muscle strength training in the last 6 months prior to study day 1 or having discontinued respiratory muscle strength training in the 6-month period preceding study day 1, or having started respiratory strength training greater than 6 months prior to study day 1 and unwilling to continue for the first year of study participation.
- •Received an investigational drug or participated in another interventional study within 90 days prior to Study Day
- •Additionally, subjects cannot participate in any other interventional clinical trial throughout the first 78 weeks after receiving ACTUS-101.
研究组 & 干预措施
Cohort 2
A one-time intravenous infusion of ACTUS-101 (dose level 2)
干预措施: ACTUS-101 (Genetic)
Cohort 1
A one-time intravenous infusion of ACTUS-101 (dose level 1)
干预措施: ACTUS-101 (Genetic)
Cohort 3
A one-time intravenous infusion of ACTUS-101 (dose level 3)
干预措施: ACTUS-101 (Genetic)
结局指标
主要结局
Incidence of patient reported Serious Adverse Events (SAEs) (safety and tolerability)
时间窗: 78 weeks
The incidence of patient reported SAEs will be measured according to protocol specifications.
Number of Participants With Abnormal Laboratory Values
时间窗: 78 weeks
Laboratory assessments will be performed (CBC, Chemistry, urinalysis, serology, anti-GAA antibody, T-cell response, GAA activity) and compared to baseline values.
Incidence of patient reported Treatment Emergent Adverse Events (TEAEs) (safety and tolerability)
时间窗: 78 weeks
The incidence of patient reported TEAEs will be measured according to protocol specifications.
次要结局
- Anti-rhGAA antibody formation(78 weeks)
- Serum GAA Bioactivity(78 weeks)
- Muscle Status Testing - Gross Motor Function Measure(78 weeks)
- Muscle Status Testing - Timed up and Go (TUG)(78 weeks)
- Muscle Status Testing - 6 minute walk test(78 weeks)
- Muscle Status Testing - Quick Motor Function Test (QMFT) Measure(78 weeks)
- Muscle Status Testing - Gait, Stairs, Gower, Chair(78 weeks)
- Muscle GAA Bioactivity(78 weeks)
- Glycogen content in muscle(78 weeks)
- Pulmonary Function Testing(78 weeks)