0000000000397313
AUTHOR
Felix C. Ringshausen
showing 2 related works from this author
The disease-specific clinical trial network for primary ciliary dyskinesia: PCD-CTN
2022
Primary ciliary dyskinesia; Rare genetic disorder; Lung diseases Discinesia ciliar primaria; Trastorno genético raro; Enfermedades pulmonares Discinesia ciliar primària; Trastorn genètic rar; Malalties pulmonars Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by impaired mucociliary clearance leading to irreversible lung damage. In contrast to other rare lung diseases like cystic fibrosis (CF), there are only few clinical trials and limited evidence-based treatments. Management is mainly based on expert opinions and treatment is challenging due to a wide range of clinical manifestations and disease severity. To improve clinical and translational research and facili…
Primary ciliary dyskinesia in adults with bronchiectasis: Data from the Embarc registry
2018
Introduction: Primary ciliary dyskinesia (PCD) is an inherited cause of bronchiectasis where defects in motile cilia result in failure to clear mucus. Individuals have life-long productive cough and recurrent infections Methods: The embarc registry is a prospective pan-European observational study of adults with bronchiectasis. Data entered into the registry between March 2015 and Jan 2018 was assessed. Disease severity in PCD was compared to two age and gender matched cohorts, the first consisting of individuals with immune deficiency and a second with idiopathic disease. Results: 287/11204 individuals (2.6%) were reported to have PCD. 65% were female, reflecting the female predominance in…