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Characterizing the Upper Airway Manifestations in Primary Ciliary Dyskinesia and Primary Immunodeficiencies

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Conditions

Primary Ciliary DyskinesiaKartagener SyndromePrimary Immune Deficiency

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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

Though common, morbidities related to upper airway disease in primary ciliary dyskinesia (PCD) and primary immunodeficiencies (PID) have not been fully characterized. These conditions can be difficult to distinguish due to their overlapping phenotypes. The sinonasal and middle ear features are often identified as most problematic by patients and their families, and optimal, highly effective treatment regimens have not been established. The main objective of this project is to characterize and compare the upper airway phenotypes in individuals with confirmed diagnosis of PCD and PID, and to collect critical data to inform the design of future clinical trials of treatment of the upper airway diseases. The investigators anticipate that these investigations will discern the clinical, anatomical, and pathophysiological phenotypes of paranasal sinus disease in PCD and PID, identifying disease endpoints and biomarkers that differentiate these two overlapping disorders. Findings from these studies will also enhance our understanding of middle ear disease and associated hearing loss in a cross-sectional cohort of patients with PCD and PID. Ultimately, the long-term goal of our Consortium is to elucidate underlying phenotypes and genotypes of these diseases, potentially leading to novel therapeutics that will improve the lives of affected individuals. Given the COVID pandemic, certain procedures will have the option to be converted to telehealth visits to ensure compliance with local guidelines and participant safety.

Official Title

Characterizing the Upper Airway Manifestations in Primary Ciliary Dyskinesia and Primary Immunodeficiencies

Quick Facts

Study Start:2021-06-09
Study Completion:2025-07-23
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:COMPLETED

Study ID

NCT04919018

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:Not specified
Standard Ages:CHILD, ADULT
Inclusion CriteriaExclusion Criteria
  1. * Ages ≥ 5-45 years.
  2. * Informed consent, and assent from minors.
  3. * Clinical features consistent with PCD plus
  4. * At least one diagnostic test consistent with PCD:
  5. 1. Biallelic pathogenic variants in PCD-associated genes identified by genetic panel testing including deletion/duplication analysis.
  6. 2. Ciliary ultrastructural defect by transmission electron microscopy known to be disease causing, including outer dynein arm defects, outer and inner dynein arm defects, or inner dynein arm defects with microtubular disorganization.
  1. * Inability to undergo study procedures
  2. * Reported increased respiratory symptoms within 3 weeks before the scheduled visit
  3. * Congenital craniofacial abnormalities (cleft lip and/or palate, hemifacial microsomia) that may result in otologic or sinus disease
  4. * Congenital hearing loss
  5. * Diagnosis of Trisomy 21, Kabuki syndrome, DiGeorge anomaly or syndrome, 22q11 deletion syndrome, or CHARGE syndrome
  6. * History of intranasal illicit drug use (i.e. cocaine) or intranasal abuse of over the counter or prescription drugs (i.e. oxycodone, acetaminophen, etc.)
  7. * Pregnancy
  8. * Known selective IgA deficiency, specific antibody deficiency (SPAD), selective IgG subclass deficiency, selective IgM deficiency, mannose-binding lectin deficiency, as well as inborn errors of immunity (IEIs) which are not known to be associated with an increased risk of infections (e.g. autoinflammatory syndromes; unclassified disorders of immune dysregulation)
  9. * Medical condition that is known to cause secondary immunodeficiency, including human immunodeficiency virus (HIV) infection, acquired immunodeficiency syndrome (AIDS), and/or active malignancy
  10. * Patients ever having received gene therapy, hematopoietic stem cell transplant, solid organ transplant, or thymus transplant
  11. * Treatment with targeted immune modulators or immune modifiers
  12. * Treatment with chronic systemic steroids

Contacts and Locations

Principal Investigator

Stephanie Davis, MD
PRINCIPAL_INVESTIGATOR
University of North Carolina, Chapel Hill

Study Locations (Sites)

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

Collaborators and Investigators

Sponsor: University of North Carolina, Chapel Hill

  • Stephanie Davis, MD, 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 Date2021-06-09
Study Completion Date2025-07-23

Study Record Updates

Study Start Date2021-06-09
Study Completion Date2025-07-23

Terms related to this study

Additional Relevant MeSH Terms

  • Primary Ciliary Dyskinesia
  • Kartagener Syndrome
  • Primary Immune Deficiency