Early Onset and Progression of Primary Ciliary Dyskinesia Lung Disease Prior to 10 Years of Age

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:
  • GDMCC
  • PCD
• Study Design:
  • Prospective Longitudinal Cohort
• Study Type:
  • Observational
  • Longitudinal
• Total number of consented subjects: 56
• Subject Sample Telemetry Report (SSTR)

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).

• 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 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

• Primary Phenotype: Kartagener Syndrome
• Primary ciliary dyskinesia

• Clinical Trials
  • NCT00722878

• Study Chairs
  • Stephanie D. Davis, MD. University of North Carolina, Chapel Hill, NC, USA.
  • Margaret Rosenfeld, MD, MPH. Children's Hospital and Regional Medical Center, Seattle, WA, USA.
• Principal Investigators
  • Stephanie D. Davis, MD. University of North Carolina, Chapel Hill, NC, USA.
  • Scott Sagel, MD. The Children's Hospital, Aurora, CO, USA.
  • Margaret Rosenfeld, MD, MPH. Children's Hospital and Regional Medical Center, Seattle, WA, USA.
  • Sharon Dell, MD. The Hospital for Sick Children, Toronto, ON.
  • Carlos Milla, MD. Stanford University, Center for Excellence in Pulmonary Biology, Palo Alto, CA, USA.
  • Thomas Ferkol, MD. Washington University in St. Louis, St. Louis, MO, USA.
  • Jeffrey Krischer, PhD. Data Management and Coordinating Center, University of South Florida, Tampa, FL, USA.
• Funding Source
  • U54-HL096458. National Institutes of Health, Bethesda, MD, USA.