A Longitudinal, Observational Study of Primary Ciliary Dyskinesia in Adults
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 31
- 试验地点
- 2
- 主要终点
- Descriptive Analysis
研究概览
简要总结
The goal of this observational study is to characterize clinical measures and biomarkers of airway disease in adults with primary ciliary dyskinesia (PCD) and in a group of healthy volunteers (HV) to establish normative values. Lung function, mucociliary clearance, radiological findings, and clinical findings will be assessed. Furthermore, quality of life will be assessed using QOL-PCD, a disease specific questionnaire.
详细描述
Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disease characterized by progressive upper and lower respiratory tract infections and inflammation caused by impaired mucociliary clearance (MCC). While longitudinal studies of children and adolescents with PCD have informed the early natural history of lung disease, there remains a knowledge gap in disease characteristics and progression in adults. There are no prospective published data evaluating the natural history of airway morbidity and mortality in adults, and little is known about the optimal clinical measures and biomarkers to evaluate disease progression. Cohort studies are needed to understand clinical measures and biomarkers across the lifespan of people with PCD, distinguish disease subtypes, and define endpoint variability. Natural history studies are critical for designing future clinical trials. New therapies have lagged in part due to lack of clear clinical biomarkers for adults.
The overarching goal is to characterize clinical measures and biomarkers of airway disease in adults with PCD. In addition, a subset of these clinical measures and biomarkers will be collected in a group of healthy volunteers (HV) to establish normative values.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 60 Years（Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •PCD diagnosis with confirmation of 2 identified pathogenic genetic variants within 1 of the following ultrastructure variants:
- •DNAI1 ODA defect
- •Other ODA defect
- •IDA - MTD defect
- •RS defect
- •Informed consent
排除标准
- •Are a current smoker (e-cigarette, tobacco, or marijuana)
- •Are a former smoker who discontinued smoking <1 year prior to enrollment or has a cumulative 1+ pack-year smoking history
- •Have a recent stable forced expiratory volume in one second (FEV1) <35% predicted
- •Have contraindications for MRI studies (implanted devices/materials; inability to tolerate; claustrophobia or severe anxiety that would preclude MRI/imaging)
- •Have had a significant clinical radiation exposure (as determined by the investigator) within the past 6 months. Potential participants who have had a chest CT within the past 6 months may be eligible to be enrolled and their clinical CT will be utilized as the baseline for this study
- •Are pregnant or breastfeeding
- •Have any comorbidities likely to impact lung function (e.g., complex congenital heart disease, severe scoliosis, diseases involving immune dysregulation, lung transplantation, lung lobectomy, end-stage renal disease, or poor overall health status).
研究组 & 干预措施
PCD Cohort
The PCD cohort will include individuals who have a genetically confirmed diagnosis of PCD with 2 identified pathogenetic variants within 1 of 4 genetic/ultrastructural variants:
- DNAI1 ODA defect
- Other ODA defect
- IDA-MTD defect, CCDC39 or CCDC40
- Radial Spoke defect
干预措施: Spirometry (Diagnostic Test)
PCD Cohort
The PCD cohort will include individuals who have a genetically confirmed diagnosis of PCD with 2 identified pathogenetic variants within 1 of 4 genetic/ultrastructural variants:
- DNAI1 ODA defect
- Other ODA defect
- IDA-MTD defect, CCDC39 or CCDC40
- Radial Spoke defect
干预措施: Multiple Breath Washout (MBW) (Diagnostic Test)
PCD Cohort
The PCD cohort will include individuals who have a genetically confirmed diagnosis of PCD with 2 identified pathogenetic variants within 1 of 4 genetic/ultrastructural variants:
- DNAI1 ODA defect
- Other ODA defect
- IDA-MTD defect, CCDC39 or CCDC40
- Radial Spoke defect
干预措施: Mucociliary Clearance (MCC) (Diagnostic Test)
PCD Cohort
The PCD cohort will include individuals who have a genetically confirmed diagnosis of PCD with 2 identified pathogenetic variants within 1 of 4 genetic/ultrastructural variants:
- DNAI1 ODA defect
- Other ODA defect
- IDA-MTD defect, CCDC39 or CCDC40
- Radial Spoke defect
干预措施: CT of the chest (Diagnostic Test)
PCD Cohort
The PCD cohort will include individuals who have a genetically confirmed diagnosis of PCD with 2 identified pathogenetic variants within 1 of 4 genetic/ultrastructural variants:
- DNAI1 ODA defect
- Other ODA defect
- IDA-MTD defect, CCDC39 or CCDC40
- Radial Spoke defect
干预措施: MRI of the chest (Diagnostic Test)
Healthy Volunteer Cohort
The healthy volunteer cohort will include health individuals.
干预措施: Spirometry (Diagnostic Test)
Healthy Volunteer Cohort
The healthy volunteer cohort will include health individuals.
干预措施: Mucociliary Clearance (MCC) (Diagnostic Test)
Healthy Volunteer Cohort
The healthy volunteer cohort will include health individuals.
干预措施: MRI of the chest (Diagnostic Test)
结局指标
主要结局
Descriptive Analysis
时间窗: From Baseline Through Week 52
Descriptive statistical methods will be applied to analyze: lung function, measure % predicated (pp) FEV1. Absolute Change From Baseline in Percent Predicted Forced Expiratory Volume in 1 Second (ppFEV1) Through Week 52
Descriptive Analysis
时间窗: From Baseline Through Week 26
Descriptive statistical methods will be applied to analyze: lung function, measure % predicated (pp) FEV1. Absolute Change From Baseline in Percent Predicted Forced Expiratory Volume in 1 Second (ppFEV1) Through Week 26
次要结局
未报告次要终点