COMPLETED

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

Conditions

Primary Ciliary Dyskinesia Primary Immune Deficiency Kartagener Syndrome

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

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).

Official Title

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

Quick Facts

Study Start:2020-12-01

Study Completion:2025-08-06

Study Type:Not specified

Phase:Not Applicable

Enrollment:Not specified

Status:COMPLETED

Study ID

NCT04702243

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.

Ages Eligible for Study:5 Years to 45 Years

Sexes Eligible for Study:ALL

Accepts Healthy Volunteers:No

Standard Ages:CHILD, ADULT

Inclusion Criteria	Exclusion 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.

Inclusion Criteria

Exclusion 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.

Contacts and Locations

Principal Investigator

Kenneth Olivier, MD, MPH

PRINCIPAL_INVESTIGATOR

University of North Carolina, Chapel Hill

Study Locations (Sites)

Stanford University

Palo Alto, California, 94304

United States

Children's Hospital Colorado

Aurora, Colorado, 80045

United States

National Heart, Lung and Blood Institute

Bethesda, Maryland, 20814

United States

Washington University in St. Louis

Saint Louis, Missouri, 63130

United States

University of North Carolina at Chapel Hill

Chapel Hill, North Carolina, 27599

United States

Seattle Children's Hospital

Seattle, Washington, 98105

United States

Collaborators and Investigators

Sponsor: University of North Carolina, Chapel Hill

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

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2020-12-01

Study Completion Date2025-08-06

Study Record Updates

Study Start Date2020-12-01

Study Completion Date2025-08-06

Terms related to this study

Additional Relevant MeSH Terms

Primary Ciliary Dyskinesia
Primary Immune Deficiency
Kartagener Syndrome