Status:
COMPLETED
Characterizing the Upper Airway Manifestations in Primary Ciliary Dyskinesia and Primary Immunodeficiencies
Lead Sponsor:
University of North Carolina, Chapel Hill
Collaborating Sponsors:
Washington University School of Medicine
The Hospital for Sick Children
Conditions:
Primary Ciliary Dyskinesia
Kartagener Syndrome
Eligibility:
All Genders
5-45 years
Brief Summary
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...
Detailed Description
Approximately 200 participants with a diagnosis of PCD (n=100) and PID (n=100) who will each participate in a single study visit will be recruited. 30 percent of participants will be under the age of ...
Eligibility Criteria
Inclusion
- Overall inclusion criteria for PCD and PID:
- Ages ≥ 5-45 years.
- Informed consent, and assent from minors.
- Inclusion Criteria for PCD:
- Clinical features consistent with PCD plus
- At least one diagnostic test consistent with PCD:
- Biallelic pathogenic variants in PCD-associated genes identified by genetic panel testing including deletion/duplication analysis.
- 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.
- Inclusion Criteria for PID:
- \- A clinical diagnosis of PID known to be associated with an increased risk of infections, as defined by the European Society of Immunodeficiencies (ESID) registry, AND a genetic confirmation with a known or likely pathogenic variant.
- OR a diagnosis of a common variable immunodeficiency (CVID) as defined by the ESID registry:
- a. At least one of the following:
- i. Increased susceptibility to infection
- ii. Autoimmune manifestations
- iii. Granulomatous disease
- iv. Unexplained polyclonal lymphoproliferation
- v. Affected family member with antibody deficiency
- b. AND marked decrease of IgG and IgA with or without low IgM levels
- c. AND at least one of the following:
- i. Poor antibody response to vaccines (and/or absent isohemagglutinins)
- ii. Low switched memory B cells (\<70 percent of age-related normal value)
- d. AND secondary causes of hypogammaglobulinemia have been excluded (e.g., infection, protein loss, medication, malignancy)
- e. AND diagnosis established after the 4th year of life
- f. AND no evidence of profound T cell deficiency
Exclusion
- Inability to undergo study procedures
- Reported increased respiratory symptoms within 3 weeks before the scheduled visit
- Congenital craniofacial abnormalities (cleft lip and/or palate, hemifacial microsomia) that may result in otologic or sinus disease
- Congenital hearing loss
- Diagnosis of Trisomy 21, Kabuki syndrome, DiGeorge anomaly or syndrome, 22q11 deletion syndrome, or CHARGE syndrome
- History of intranasal illicit drug use (i.e. cocaine) or intranasal abuse of over the counter or prescription drugs (i.e. oxycodone, acetaminophen, etc.)
- Pregnancy
- 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)
- Medical condition that is known to cause secondary immunodeficiency, including human immunodeficiency virus (HIV) infection, acquired immunodeficiency syndrome (AIDS), and/or active malignancy
- Patients ever having received gene therapy, hematopoietic stem cell transplant, solid organ transplant, or thymus transplant
- Treatment with targeted immune modulators or immune modifiers
- Treatment with chronic systemic steroids
Key Trial Info
Start Date :
June 9 2021
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
July 23 2025
Estimated Enrollment :
159 Patients enrolled
Trial Details
Trial ID
NCT04919018
Start Date
June 9 2021
End Date
July 23 2025
Last Update
August 21 2025
Active Locations (4)
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1
Washington University in St. Louis
St Louis, Missouri, United States, 63130
2
University of North Carolina at Chapel Hill
Chapel Hill, North Carolina, United States, 27599
3
The Hospital for Sick Children
Toronto, Ontario, Canada, M5G 0A4
4
McGill University
Montreal, Quebec, Canada, H4A 3J1