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

Description

The investigators will utilize a systematic approach for the diagnostic evaluation of patients to identify characteristics which may distinguish between Primary Immunodeficiency (PID) disorders versus Primary Ciliary Dyskinesia (PCD).

Conditions

Primary Ciliary Dyskinesia, Primary Immune Deficiency, Kartagener Syndrome

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Study Overview

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Study Details

Study overview

The investigators will utilize a systematic approach for the diagnostic evaluation of patients to identify characteristics which may distinguish between Primary Immunodeficiency (PID) disorders versus Primary Ciliary Dyskinesia (PCD).

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

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

Condition
Primary Ciliary Dyskinesia
Intervention / Treatment

-

Contacts and Locations

Palo Alto

Stanford University, Palo Alto, California, United States, 94304

Aurora

Children's Hospital Colorado, Aurora, Colorado, United States, 80045

Bethesda

National Heart, Lung and Blood Institute, Bethesda, Maryland, United States, 20814

Saint Louis

Washington University in St. Louis, Saint Louis, Missouri, United States, 63130

Chapel Hill

University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, United States, 27599

Seattle

Seattle Children's Hospital, Seattle, Washington, United States, 98105

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • * Age 5-45 years
  • * Male and Female Subjects
  • * All races and ethnicities
  • * Neonatal respiratory distress (in term neonates with O2 requirement)
  • * Chronic wet cough (year-round for at least 12 months)
  • * Recurrent episodes of bacterial bronchitis
  • * Recurrent pneumonia (confirmed on chest x-ray)
  • * Respiratory non-tuberculous mycobacteria (NTM) (documented respiratory NTM culture)
  • * Chronic nasal congestion
  • * Recurrent/chronic paranasal sinusitis
  • * Ongoing middle-ear disease and/or tympanostomy tube placement at age ≥ 4 years
  • * Organ laterality defect
  • * Low nasal nitric oxide (\< 77 nL/min) (by plateau measurement)
  • * Confirmed family history of PID or PCD
  • * Anyone who has a confirmed genetic diagnosis of PCD or PID
  • * Cystic Fibrosis
  • * Alpha-antitrypsin deficiency in adults (18 years and older)
  • * Congenital upper or lower airway anomalies
  • * Post-lung or heart transplant, or other conditions requiring immunosuppression therapy
  • * Other confounding features, such as lung disease due to prematurity (born \< 28 weeks gestation) or HIV
  • * Neurological compromise and evidence of recurrent aspiration
  • * Conditions known to be commonly associated with bronchiectasis, such as prior mycobacterium tuberculosis
  • * Have not had standard clinical evaluation to address other potential causes of chronic oto-sino- pulmonary disease, particularly cystic fibrosis, aspiration or airway anatomic abnormalities.

Ages Eligible for Study

5 Years to 45 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

University of North Carolina, Chapel Hill,

Kenneth Olivier, MD, MPH, PRINCIPAL_INVESTIGATOR, University of North Carolina, Chapel Hill

Study Record Dates

2025-07-31