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Study Description

Primary Ciliary Dyskinesia (PCD) is a genetic defect in airway host-defense, and typically results in chronic infection of the airways. Patients with PCD have chronic lung, sinus and ear infections. This longitudinal study is designed to define the rate of progression of PCD lung function in participants prior to 10 years of age using special lung function tests, which help to track lung impairment and prognosis in other disorders of the airways such as cystic fibrosis. This longitudinal protocol will also systematically track other specific outcomes, including pathogens infecting the airways (assessed by respiratory cultures), and age at onset and progression of airway damage and bronchiectasis [assessed by high-resolution computerized tomography (HRCT) of the chest].

  • Study Weblinks:
  • Study Type:
    • Observational
    • Longitudinal
  • Number of study subjects that have individual-level data available through Authorized Access:
Authorized Access
Publicly Available Data (Public ftp)

Connect to the public download site. The site contains release notes and manifests. The site also contains data dictionaries, variable summaries, documents, and truncated analyses, whenever available.

Study Inclusion/Exclusion Criteria

Inclusion criteria:

  • Individuals < 5 years of age with confirmed diagnosis of PCD (electron microscopy diagnostic of PCD as confirmed by the team at UNC and/or identification of two known disease causing gene mutations)
    OR
    Individuals < 5 years of age with "probable" PCD [PCD compatible clinical phenotype (key clinical features of chronic sinopulmonary disease and/or neonatal respiratory disorder with or without situs inversus) plus very low nasal NO (<60 nl/min), but non-diagnostic ciliary ultrastructure and gene mutation analysis plus documentation of at least 2 normal sweat chloride studies performed at an accredited Cystic Fibrosis Center or a repeat sweat chloride performed at the Mucociliary Clearance Consortium study site].
  • Informed consent by participant or parent/legal guardian of minor participant (including HIPAA consent).
Exclusion Criteria:
  • Inability to maintain follow-up appointments
  • Post lung transplantation
  • Co-existing severe diseases that may have significant impact on lung function (severe congenital heart disease, severe scoliosis), or respiratory infections (AIDS) or overall health status (cancer, end-stage renal disease)

Study History

  • Study Activated July 02, 2008
  • First Accrual July 17, 2008
  • Closed to accrual August 10, 2011
  • Last OSMB review May 29, 2014
  • Next OSMB review scheduled for May/June 2015

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Diseases/Traits Related to Study (MeSH terms)
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