Primary Ciliary Dyskinesias: Identification of Specific Severity Criteria and Phenotype-genotype Correlation Study
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 300
- 试验地点
- 30
- 主要终点
- Comparison and description for severe and non-severe patients of the phenotypic characteristics of the disease in adult and pediatric patients.
研究概览
简要总结
Primary Ciliary Dyskinesias (PCD) are rare, autosomal recessive respiratory diseases, due to a defect in mucociliary clearance linked to abnormalities in the structure and/or function of the cilia. The variety of ciliary abnormalities identified reflects the genetic heterogeneity of PCDs. The thirty or so genes currently implicated explain the pathology in about half of the patients. PCDs are characterized by recurrent infections of the upper (rhinosinusitis) and lower (bronchitis) airways, beginning in early childhood and progressing respectively to nasal polyposis and bronchial dilatation. In half of the cases, there is a lateralization defect of the organs (situs inversus) corresponding to Kartagener's syndrome. There is more frequent infertility in men (immobility of spermatozoa) than in women (miscarriages and tubal pregnancies). About a third of patients progress to respiratory failure. The identification of predictive factors of severity, specific to PCDs, would improve patient care. It is also important to assess the quality of life of patients with PCD, particularly at the ENT level.
Data from prevalent patients are currently integrated into three separate and complementary databases: the "e-RespiRare" database, the "DCP Cils" database and the "DCP genes" database. The first step is therefore to constitute the RaDiCo-DCP database which will include data from prevalent and incident patients whose diagnosis of PCD is certain.
The cohort aims to improve the routine care of PCD patients, in particular by highlighting predictive factors of severity, allowing early and personalized care, to assess the social impact (quality of life) and medical conditions of ENT impairment, as well as adult infertility, to finely characterize the ciliary phenotype. The study also aims to search for new DCP genes and to allow genotype/phenotype correlation studies.
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
- •Patient fulfilling at least one of the following criteria for PCD confirmed diagnosis: Kartagener's syndrome and/or specific anomaly of the ciliary ultrastructure and/or an unambiguous mutation in a PCD gene
- •Having at least one annual follow-up visit
- •Non-inclusion Criteria:
- •Patients with an unconfirmed diagnosis of PCD
- •Patients with an evolving concomitant pathology that may interfere with the assessment of PCD-related manifestations
排除标准
- 未提供
结局指标
主要结局
Comparison and description for severe and non-severe patients of the phenotypic characteristics of the disease in adult and pediatric patients.
时间窗: Through study completion, an average of 5 years
次要结局
- Impact of disease on quality of life will be evaluated through scores of quality of life questionnaire Best Cilia 18+ years old(Through study completion, an average of 5 years)
- Impact of disease on quality of life will be evaluated through scores of quality of life questionnaire Sino-nasal outcome test-22(Through study completion, an average of 5 years)
- Impact of disease on quality of life will be evaluated through scores of quality of life questionnaires Best Cilia 6-12 years old(Through study completion, an average of 5 years)
- Validation of the involvement of new DCP genes(Through study completion, an average of 5 years)
- Impact of disease on quality of life will be evaluated through scores of quality of life questionnaire Best Cilia 13-17 years old(Through study completion, an average of 5 years)