LATE-ONSET POMPE DISEASE AND CEREBROVASCULAR MANIFESTATIONS
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 477
- 试验地点
- 1
- 主要终点
- Prevalence of severe cerebrovascular and aortic vascular malformations in late-onset Pompe disease
研究概览
简要总结
Late-onset Pompe disease (LOPD) is an inherited metabolic disorder caused by deficiency of acid alpha-glucosidase (GAA). In addition to skeletal and respiratory muscle involvement, previous studies suggest that patients with LOPD may have an increased frequency of cerebrovascular and aortic vascular abnormalities, but available evidence is limited.
This multicenter, non-interventional study aims to determine whether pathogenic GAA mutations are associated with severe cerebrovascular or aortic vascular malformations. The study will include patients with confirmed LOPD and patients with intracranial aneurysms or subarachnoid hemorrhage. Clinical, laboratory, genetic, and imaging data will be collected to evaluate the frequency and characteristics of vascular abnormalities in LOPD and to identify previously undiagnosed cases presenting with vascular disease.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
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
- •Adults aged 18 years or older.
- •Written informed consent provided.
- •Documented diagnosis of late-onset Pompe disease (LOPD), or patients with ruptured or unruptured intracranial aneurysm or subarachnoid hemorrhage (with or without an associated aneurysm).
- •Willing and able to comply with study procedures and possessing adequate cognitive ability.
排除标准
- •Participants unwilling or unable to comply with study procedures or lacking the cognitive ability required to participate
结局指标
主要结局
Prevalence of severe cerebrovascular and aortic vascular malformations in late-onset Pompe disease
时间窗: Baseline (at study assessment)
To determine the prevalence and characteristics of severe cerebrovascular and aortic vascular abnormalities in participants with genetically confirmed late-onset Pompe disease and to evaluate the association between pathogenic GAA mutations and vascular involvement.
次要结局
- Frequency of reduced GAA enzyme activity in participants with intracranial aneurysm or subarachnoid hemorrhage(Baseline)
- Frequency and distribution of vascular malformations in late-onset Pompe disease(Baseline)
- Severity of vascular lesions(Baseline)