Registry of Patients Diagnosed With Lysosomal Storage Diseases
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 250
- 试验地点
- 1
- 主要终点
- Number of participants that show functional cardiac, growth, mobility, and neurocognitive function.
研究概览
简要总结
This is an international prospective and retrospective registry of patients with Lysosomal Storage Diseases (LSDs) to understand the natural history of the disease and the outcomes of fetal therapies, with the overall goal of improving the prenatal management of patients with LSDs.
详细描述
The need for methods to track patient outcomes, clinical management, medical decision making, and quality of care are all part of current national mandates in patient safety and quality of care delivery.
The aim of this registry is to prospectively and retrospectively collect data on patients who are diagnosed with Lysosomal Storage Disease and other LSD mutations. Data collected will be used to:
- Identify patient outcomes of therapies.
- Improve clinical management of patients with LSDs.
- Improve medical decision making.
- Improve quality of care.
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
- — 至 64 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients aged 0-64 with a diagnosis of a lysosomal storage disease
- •Pregnant patients whose fetus has a diagnosis of a lysosomal storage disease
排除标准
- •There are no current exclusion criteria
结局指标
主要结局
Number of participants that show functional cardiac, growth, mobility, and neurocognitive function.
时间窗: 15 years
echocardiogram, skeletal survey, neurocognitive assessments such as Bayley III to assess cardiac, growth, mobility and neurocognitive function.
Number of patients with and types of prenatal features of Lysosomal Storage Diseases
时间窗: 15 years
Prenatal presentation of symptoms (e.g. hydrops) appearing on fetal imaging such as ultrasound and ECHO.
Number of participants that show measured levels of antibodies against the enzyme.
时间窗: 15 years
Laboratory analysis of blood to measure antibody levels.
Number of participants with the presence and levels of glycosaminoglycans (GAGs) in urine.
时间窗: 15 years
Laboratory analysis of urine for GAG levels.
次要结局
未报告次要终点