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

NCT05161858 | Completed DMC

• 1 other identifier: 20-0805
• Study Type: observational
• Target: 105
• Locations: 2 countries
• Sites: 7

Brief Summary

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).

Conditions

Primary Ciliary Dyskinesia; Kartagener Syndrome

Outcome Measures

Primary Outcomes (3)

• 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

Study Arms (2)

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

Eligibility Criteria

• Age: 6 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Subjects diagnosed with PCD

You may qualify if:

• Diagnosis of PCD
• Clinical features consistent with PCD PLUS
• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Washington University School of Medicine: collaborator
• Children's Hospital Colorado: collaborator
• Stanford University: collaborator
• Seattle Children's Hospital: collaborator
• The Hospital for Sick Children: collaborator
• McGill University: collaborator
• Children's Hospital Medical Center, Cincinnati: collaborator
• University of North Carolina, Chapel Hill: lead

Study Sites (7)

Stanford University

Palo Alto, California, 94304, United States

Location

Children's Hospital Colorado

Aurora, Colorado, 80045, United States

Location

Washington University in St. Louis

St Louis, Missouri, 63130, United States

Location

University of North Carolina at Chapel Hill

Chapel Hill, North Carolina, 27599, United States

Location

Seattle Children's Hospital

Seattle, Washington, 98105, United States

Location

The Hospital for Sick Children

Toronto, Ontario, M5G 0A4, Canada

Location

McGill University

Montreal, Quebec, H4A 3J1, Canada

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

sputum for inflammatory markers

MeSH Terms

Conditions

Ciliary Motility Disorders; Kartagener Syndrome

Condition Hierarchy (Ancestors)

Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Ciliopathies; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Bronchiectasis; Bronchial Diseases; Respiratory System Abnormalities; Dextrocardia; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Situs Inversus

Study Officials

• Margaret Rosenfeld, MD

  Seattle Children's Hospital

  PRINCIPAL INVESTIGATOR

• Scott Sagel, MD, PhD

  Children's Hospital Colorado

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 29, 2021
• First Posted: December 17, 2021
• Study Start: March 29, 2022
• Primary Completion: September 30, 2025
• Study Completion: September 30, 2025
• Last Updated: December 10, 2025

Record last verified: 2025-12

Data Sharing

• IPD Sharing: Will share
• Time Frame: The data will become available following the completion of the study and when the DMCC transfers the data to the federal repository.
• 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.

Locations

US (5); CA (2)