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).
Conditions:
Primary Ciliary Dyskinesia Kartagener Syndrome
Study Start (Actual) 2022-03-29
Primary Completion (Estimated) 2024-07-31
Study Completion (Estimated) 2024-07-31
Enrollment (Estimated) 125
Study Type OBSERVATIONAL
Phase N/A
Locations:
πŸ“ Palo Alto, California, United States
πŸ“ Aurora, Colorado, United States
πŸ“ Saint Louis, Missouri, United States
πŸ“ Chapel Hill, North Carolina, United States
πŸ“ Seattle, Washington, United States
πŸ“ Toronto, Ontario, Canada
πŸ“ MontrΓ©al, Quebec, Canada

Eligibility Criteria

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 β‰₯ 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
Ages Eligible for Study: 6 Years to N/A (CHILD, ADULT, OLDER_ADULT)
Sexes Eligible for Study: ALL
Accepts Healthy Volunteers: No

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

  • First Submitted2021-11-29
  • First Submitted that Met QC Criteria2021-12-10
  • First Posted2021-12-17

Study Record Updates

  • Last Update Submitted that Met QC Criteria2024-04-30
  • Last Update Posted2024-05-02
  • Last Verified2024-04