Longitudinal Characterization of Respiratory Tract Exacerbations and Treatment Responses in Primary Ciliary Dyskinesia

The overall objective of this longitudinal, observational study is to provide information needed to inform the design of future interventional trials of respiratory exacerbation prevention and treatment in children and adults with primary ciliary dyskinesia (PCD).

Study Overview

• Status: Completed
• Conditions: Primary Ciliary Dyskinesia; Kartagener Syndrome

Detailed Description

This is a longitudinal, prospective multicenter study to characterize acute respiratory illnesses (ARIs) and response to treatment in PCD patients. Participants (N=125) will be children age ≥6 years and adults with definite PCD. Participants will be enrolled for approximately 13 months, during which they will attend at least two study visits and perform home monitoring. Participants will be encouraged to attend study visits in-person but will have the option for virtual telehealth visits to ensure compliance with local guidelines and participant safety. Endpoints will be assessed during both well state (i.e., patients typical state of health) and sick state (i.e., during each self-reported period of acute respiratory illness). Informed consent will be obtained, after which the participant will be receive a home spirometer and instructed in its use This design allows for a training period in order to become proficient with home spirometry, with the first study visit occurring 1 month ± 2 weeks after enrollment and the second 12 (±1) months after visit 1 (coordinated with routine clinic visits as possible). Participants will also participate in a set of two optional ARI visits during one ARI, scheduled between 3-5 business days of study team notification by the participant of the new ARI and 2-4 weeks later.

• Study Type: Observational
• Enrollment (Actual): 105

Contacts and Locations

Study Locations

• Canada
  • Ontario
    • Toronto, Ontario, Canada, M5G 0A4
      • The Hospital for Sick Children
  • Quebec
    • Montreal, Quebec, Canada, H4A 3J1
      • McGIll University
• United States
  • California
    • Palo Alto, California, United States, 94304
      • Stanford University
  • Colorado
    • Aurora, Colorado, United States, 80045
      • Children's Hospital Colorado
  • Missouri
    • St Louis, Missouri, United States, 63130
      • Washington University in St. Louis
  • North Carolina
    • Chapel Hill, North Carolina, United States, 27599
      • University of North Carolina at Chapel Hill
  • Washington
    • Seattle, Washington, United States, 98105
      • Seattle Children's Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 6 years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Subjects diagnosed with PCD

Description

Inclusion Criteria:

• Diagnosis of PCD

  1. Clinical features consistent with PCD PLUS
  2. At least 1 diagnostic test consistent with PCD:

  i) Biallelic pathogenic variants in PCD-associated genes identified by genetic panel testing including deletion/duplication analysis; ii) Ciliary ultrastructural defect by transmission electron microscopy known to be disease-causing, including outer dynein arm defects, outer dynein arm plus inner dynein arm (IDA) defects, IDA defects with microtubular disorganization and absent central pair

• Age ≥ 6 years
• At least one course of antibiotics (oral or IV) in the prior year prescribed to treat new or increased respiratory symptoms
• Smart phone and/or internet access available in home
• Informed consent provided by participant or parent/guardian, with assent provided as applicable

Exclusion Criteria:

• Acute course of antibiotics for respiratory symptoms completed <14 days prior to enrollment or Visit 1 (evaluated at enrollment and Visit 1; visit may be rescheduled >14 days after completion of antibiotics)
• Developmental or cognitive disability that would impair ability to complete PRO instruments or perform spirometry
• Congenital heart disease OTHER THAN repaired or resolved atrial septal defect (ASD) or ventricular septal defect (VSD)
• Asplenia or functional asplenia
• Co-existing non-pulmonary disease that, in the opinion of the investigator, could have significant impact on lung function or health-related quality of life (e.g., severe scoliosis) or overall health status (e.g., cancer, severe renal disease)
• Listed for or post-lung transplantation

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
Primary Ciliary Dyskinesia (PCD) - Well State; Subjects with confirmed PCD in Well State
Primary Ciliary Dyskinesia (PCD) - Sick State; Subjects with confirmed PCD in Sick State

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Mean FEV1 Percent Predicted Values in Well State and Sick State	Forced expired volume in 1 second (FEV1) will be assessed by percentage of the predicted value (0-100%).	12 months
Mean Primary Ciliary Dyskinesia-Quality of Life Score in Well State and Sick State	Domains (scales) include physical, emotional, social, school and role functioning; treatment burden; ears and hearing; upper and lower respiratory symptoms; and vitality. The recall period is one week and responses are rated on a 4-point Likert scale.	12 months
Mean PCD-Respiratory Symptom Diary Score Well State and Sick State	The PCD-RSD contains 17 items, 10 on symptoms and 7 on social/emotional impact. The recall period is 24 hours and 15 questions are rated on a 5-point Likert Scale, while two questions are binary (Range: 0-62, 0 being the best and 62 being the worst).	12 months

Collaborators and Investigators

• Sponsor: University of North Carolina, Chapel Hill
• Collaborators: The Hospital for Sick Children; Washington University School of Medicine; McGill University; Children's Hospital Colorado; Seattle Children's Hospital; Stanford University; Children's Hospital Medical Center, Cincinnati
• Investigators: Principal Investigator: Margaret Rosenfeld, MD, Seattle Children's Hospital; Principal Investigator: Scott Sagel, MD, PhD, Children's Hospital Colorado

Study record dates

Study Major Dates

• Study Start (Actual): March 29, 2022
• Primary Completion (Actual): September 30, 2025
• Study Completion (Actual): September 30, 2025

Study Registration Dates

• First Submitted: November 29, 2021
• First Submitted That Met QC Criteria: December 10, 2021
• First Posted (Actual): December 17, 2021

Study Record Updates

• Last Update Posted (Actual): December 10, 2025
• Last Update Submitted That Met QC Criteria: December 8, 2025
• Last Verified: December 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Ciliopathies; Cardiovascular Diseases; Heart Diseases; Genetic Diseases, Inborn; Respiratory Tract Diseases; Bronchial Diseases; Congenital Abnormalities; Otorhinolaryngologic Diseases; Cardiovascular Abnormalities; Heart Defects, Congenital; Abnormalities, Multiple; Respiratory System Abnormalities; Bronchiectasis; Dextrocardia; Situs Inversus; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Ciliary Motility Disorders; Kartagener Syndrome
• Other Study ID Numbers: 20-0805

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: This project is part of the Rare Diseases Clinical Research Network (RDCRN). As such, this project is required to share data with the RDCRN Data Management and Coordinating Center (DMCC) for the purpose of establishing a data repository under National Institutes of Health (NIH) oversight.
• IPD Sharing Time Frame: The data will become available following the completion of the study and when the DMCC transfers the data to the federal repository.
• IPD Sharing Access Criteria: • The policies and procedures for requesting and obtaining access to the RDCRN Data Repository will be determined by the NIH program officials responsible for the Data Repository, in consultation with the RDCRN Steering Committee, and will be managed by the RDCRN DMCC.

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No