Update of respiratory tract disease in children with primary ciliary dyskinesia

Scott D. Sagel, Stephanie Davis, Paolo Campisi, Sharon D. Dell

Research output: Contribution to journalArticle

39 Citations (Scopus)

Abstract

Primary ciliary dyskinesia (PCD) is a rare genetic disease characterized by abnormal ciliary structure and function leading to impaired mucociliary clearance and chronic progressive sinopulmonary disease. Upper and lower respiratory tract manifestations are cardinal features of PCD. This review summarizes the current state of knowledge of respiratory tract disease in individuals with PCD and highlights the challenges in identifying and quantifying lung disease in very young children with PCD. No specific therapies are available to correct ciliary dysfunction in PCD. Treatment is not evidence based, and recommendations are largely extrapolated from cystic fibrosis and other conditions with impaired mucociliary clearance. There is a pressing need to develop and validate outcome measures, including patient-reported outcomes, that could be used to evaluate potential therapies in PCD. This review concludes with recommendations for clinical endpoints and outcome measures and a prioritized list of treatments to study in PCD clinical trials.

Original languageEnglish (US)
Pages (from-to)438-443
Number of pages6
JournalProceedings of the American Thoracic Society
Volume8
Issue number5
DOIs
StatePublished - Sep 15 2011
Externally publishedYes

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Kartagener Syndrome
Respiratory Tract Diseases
Mucociliary Clearance
Outcome Assessment (Health Care)
Inborn Genetic Diseases
Therapeutics
Rare Diseases
Cystic Fibrosis
Respiratory System
Lung Diseases
Clinical Trials

Keywords

  • Clinical trial
  • Lung disease
  • Outcome measure
  • Patient-reported outcome
  • Primary ciliary dyskinesia

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine

Cite this

Update of respiratory tract disease in children with primary ciliary dyskinesia. / Sagel, Scott D.; Davis, Stephanie; Campisi, Paolo; Dell, Sharon D.

In: Proceedings of the American Thoracic Society, Vol. 8, No. 5, 15.09.2011, p. 438-443.

Research output: Contribution to journalArticle

Sagel, Scott D. ; Davis, Stephanie ; Campisi, Paolo ; Dell, Sharon D. / Update of respiratory tract disease in children with primary ciliary dyskinesia. In: Proceedings of the American Thoracic Society. 2011 ; Vol. 8, No. 5. pp. 438-443.
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