Characterizing the Upper Airway Manifestations in Primary Ciliary Dyskinesia and Primary Immunodeficiencies
Launched by UNIVERSITY OF NORTH CAROLINA, CHAPEL HILL · Jun 2, 2021
Trial Information
Current as of July 24, 2025
Recruiting
Keywords
ClinConnect Summary
This clinical trial is looking at how certain diseases, specifically Primary Ciliary Dyskinesia (PCD) and Primary Immunodeficiencies (PID), affect the upper airway, which includes the nose and ears. These conditions can make it hard for people to breathe well or can lead to frequent infections. The researchers want to understand the symptoms and problems related to the nose and ears in patients with these diseases. By gathering this information, they hope to improve future treatments and help people manage their symptoms better.
To participate, individuals aged 5 to 45 who have been diagnosed with PCD or PID may be eligible. Participants will undergo various tests to confirm their condition and will help the researchers learn more about how these diseases affect them. The study may also include telehealth options to keep everyone safe during the ongoing COVID pandemic. Overall, this trial aims to gather important information that could lead to new treatments and better care for those affected by these challenging diseases.
Gender
ALL
Eligibility criteria
- Inclusion Criteria:
- 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:
- • 1. Biallelic pathogenic variants in PCD-associated genes identified by genetic panel testing including deletion/duplication analysis.
- • 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.
- 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 Criteria:
- • 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
About University Of North Carolina, Chapel Hill
The University of North Carolina at Chapel Hill (UNC) is a leading research institution renowned for its commitment to advancing health and science through innovative clinical trials. With a robust infrastructure that supports multidisciplinary collaboration, UNC conducts cutting-edge research across various fields, including medicine, public health, and biomedical sciences. The university is dedicated to improving patient care and health outcomes by translating its research findings into practical applications. UNC’s clinical trials are designed to evaluate new therapies, interventions, and technologies, ensuring that they meet the highest ethical and scientific standards while fostering a culture of inclusivity and community engagement.
Contacts
Jennifer Cobb
Immunology at National Institute of Allergy and Infectious Diseases (NIAID)
Locations
Chapel Hill, North Carolina, United States
Saint Louis, Missouri, United States
Toronto, Ontario, Canada
Montréal, Quebec, Canada
Patients applied
Trial Officials
Stephanie Davis, MD
Principal Investigator
University of North Carolina, Chapel Hill
Timeline
First submit
Trial launched
Trial updated
Estimated completion
Not reported
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