NCT00231400招募中不适用
Pompe Disease Registry
Genzyme, a Sanofi Company533 个研究点 分布在 14 个国家目标入组 2,000 人开始时间: 2004年9月15日最近更新:
适应症
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 2,000
- 试验地点
- 533
- 主要终点
- Understanding of the variability, progression , identification and natural history of the manifestations of Pompe disease
研究概览
简要总结
The Pompe Registry is a global, multicenter, international, longitudinal, observational, and voluntary program for patients with Pompe disease, designed to track the disease's natural history and outcomes in patients, both treated and not. Data from the Registry are also used to fulfill various global regulatory commitments, to support product development/reimbursement, and for other research and non-research related purposes.
The objectives of the Registry are:
- To enhance understanding of the variability, progression, identification, and natural history of Pompe disease, with the ultimate goal of better guiding and assessing therapeutic intervention.
- To assist the Pompe medical community with the development of recommendations for monitoring patients, and to provide reports on patient outcomes, to optimize patient care.
- To characterize the Pompe disease population.
- To evaluate the long-term effectiveness of alglucosidase alfa.
详细描述
Study Design Time Perspective: Retrospective and Prospective
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •All patients with a confirmed diagnosis of Pompe disease who have signed the informed consent and authorization form(s) are eligible for inclusion. Confirmed diagnosis is defined as documented GAA enzyme deficiency from blood, skin, or muscle tissue and/or documentation of 2 GAA gene mutations.
排除标准
- •There are no exclusion criteria in this Registry
结局指标
主要结局
Understanding of the variability, progression , identification and natural history of the manifestations of Pompe disease
时间窗: maximum 30 years
次要结局
未报告次要终点
研究者
研究点 (533)
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