Registry for Primary Ciliary Dyskinesia: : Systematic Data Collection on Incidence, Clinical Presentation, Treatment and Course of the Disease
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 12
- 试验地点
- 1
- 主要终点
- Age of diagnosis
研究概览
简要总结
Primary Ciliary Dyskinesia (PCD) is a rare disease, which means that any single PCD center has experience with a limited number of patients. PCD Registry is the collection of data about PCD from many centers and countries who treat children with PCD. Collecting data about PCD increase the knowledge on PCD, better describe the course of the disease, and help to better understand the progression of the disease and be used to develop new treatments.
In the PCD registry of Alberta, important information about PCD such as time of diagnosis, symptoms, and tests which led to the diagnosis, state of health at diagnosis, the progression of lung function, the occurrence of severe infections, tests and treatments data will be collected from the patients' medical records.
详细描述
In order to better characterize the clinical course, and improve the diagnosis and treatment of PCD, the investigators propose to establish a provincial PCD registry in Alberta. This registry will be securely linked to the currently existing International Registry for PCD and will allow more researchers to use the information to do research on PCD.
The investigators will collect demographic data: current age, sex, age, diagnostic findings and symptoms at diagnosis; in addition, clinical data about PCD which are recorded during the past and future clinical visits and encounters (e.g. lung function, weight, height, infections, treatments, and complications) will also be collected.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Clinical diagnosis of PCD
- •Abnormal findings in at least two of the following tests:
- •High-frequency video microscopic finding, transmission electron microscopy finding, immunofluorescence finding, low nasal NO concentration/production, demonstration of biallelic disease-causing mutations by genotyping.
排除标准
- •Failure or unwillingness to give written informed consent.
结局指标
主要结局
Age of diagnosis
时间窗: 2017-2030
Years
Lung Function
时间窗: 2017-2030
% predicted for age
次要结局
未报告次要终点