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5906: Defining the Genetic Etiology of Suppurative Lung Disease in Children and Adults

Summary

A collaboration between pulmonologists and immunologists across the consortium, the project will systematically characterize the clinical phenotype and laboratory profile of patients with chronic suppurative respiratory diseases that are typically referred to pediatric and adult pulmonologists. A primary goal of this project is to identify the genetic basis of suppurative respiratory disease, including those with primary ciliary dyskinesia, primary immunodeficiencies, and other genetic disorders that interfere with airway defenses in patients without a confirmed genetic cause for their disease. This one-visit study includes a comprehensive medical history, physical exam, spirometry, nasal nitric oxide measurements, laboratory testing for genetics and immunologic evaluation, and a chest CT.

Recruiting

Participating Sites

13123 E 16th Avenue
Aurora, Colorado, United States, 80045
https://www.childrenscolorado.org/


Contact:
Principal Investigator: Scott Sagel, MD, PhD

1-720-777-2522

scott.sagel@childrenscolorado.org


Co-Investigator: Jordana Hoppe, MD, MSCS


Co-Investigator: Cullen Dutmer, MD


Co-Investigator: Elena Hsieh, MD


Clinical Research Coordinator: Anna Duong

1-720-777-0946

anna.duong@childrenscolorado.org

555 University Avenue
Toronto, Ontario, Canada, M5G 1X8
https://www.sickkids.ca/


Contact:
Principal Investigator: Felix Ratjen, MD, PhD, FRCP, (C)FERS

1-416-813-6167

felix.ratjen@sickkids.ca


Co-Investigator: Nikolaus Wolter, MD, MSc, FRCSC, FACS


Co-Investigator: Sharon Cushing, MD, MSc, FRCSC


Co-Investigator: Eyal Grunebaum, MD

eyal.grunebaum@sickkids.ca


Clinical Research Nurse Specialist: Sheryl Hewko

1-416-813-7865 ext 307865

sheryl.hewko@sickkids.ca

845 Sherbrooke Street W
Montreal, Quebec, Canada, H3A 0G4
https://www.mcgill.ca/


Contact:
Site Principal Investigator: Adam J. Shapiro, MD

1-514-412-4444

adam.shapiro@muhc.mcgill.ca


Co-Investigator: Sam J. Daniel, MD


Co-Investigator: Reza Alizadehfar, MD


Co-Investigator: Joshua Gurberg, MD


Co-Investigator: Marc Tewfik, MD


Co-Investigator: Donald Vinh, MD

Sandra Pepin, RN

Mylène Roy, PDt, CCRP

9000 Rockville Pike
Bethesda, Maryland, United States, 20892
https://www.nih.gov/about-nih/what-we-do/nih-almanac/national-heart-lung-blood-institute-nhlbi


Contact:
Associate Research Physician: Andrew J. Lipton, MS, MD, MPH&TM

1-301-451-4950

andrew.lipton@nih.gov


Acute Care Nurse Practitioner: Kelly Kumar, CRNP

1-301-435-2783

kelly.kumar@nih.gov

4800 Sand Point Way NE
Seattle, Washington, United States, 98105
https://www.seattlechildrens.org/


Contact:
Principal Investigator: Margaret Rosenfeld, MD, MPH

1-206-987-2714

margaret.rosenfeld@seattlechildrens.org


Sub-Investigator: Bre Kinghorn, MD, MS

1-206-987-2714


Clinical Research Coordinator II: Michael 'Cisco' Pascual

1-206-884-2648

michael.pascual@seattlechildrens.org


Research Nurse Manager: Sharon McNamara, MN

1-206-987-3921

sharon.mcnamara@seattlechildrens.org

450 Serra Mall
Stanford, California, United States, 94305
https://www.stanford.edu/


Contact:
Principal Investigator: Carlos E. Milla, MD

cmilla@stanford.edu


Co-Investigator: Meghan Marmor, MD

jmmarmor@stanford.edu


Co-Investigator: Jacquelyn M (Zirbes) Spano, DNP, RN, CNP, CCRC

1-650-721-1132

jmzirbes@stanford.edu

101 Manning Drive
Chapel Hill, North Carolina, United States, 27514
https://www.unc.edu/


Contact:
Principal Investigator: Kenneth Olivier, MD, MPH


Co-Principal Investigator: Stephanie D. Davis, MD


Co-Principal Investigator: Thomas Ferkol, MD

1-314-454-2694

thomas_ferkol@med.unc.edu


Co-Principal Investigator: Michael Knowles, MD


Co-Principal Investigator: Margaret Leigh, MD


Co-Principal Investigator: Maimoona Zariwala, PhD


Co-Principal Investigator: Adam Kimple, MD, PhD


Co-Principal Investigator: Eveline Wu, MD


Co-Principal Investigator: Tim Vece, MD


Co-Principal Investigator: Leigh Anne Daniels, MD, MPH


Project Officer: Kelli M. Sullivan, MPH

1-919-962-9786

kelli_sullivan@med.unc.edu

1 Brookings Drive
St. Louis, Missouri, United States, 63130
https://wustl.edu/


Contact:
Principal investigator: Amjad Horani, MD

horani_a@wustl.edu


Research Coordinator: Jane Quante, RN

1-314-454-2353