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

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ClinicalTrials.gov Identifier: NCT05161858
Recruitment Status : Recruiting
First Posted : December 17, 2021
Last Update Posted : April 13, 2023
Sponsor:
Collaborators:
Washington University School of Medicine
Children's Hospital Colorado
Stanford University
Seattle Children's Hospital
The Hospital for Sick Children
McGill University
Children's Hospital Medical Center, Cincinnati
Information provided by (Responsible Party):
University of North Carolina, Chapel Hill

Study Description
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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).

Condition or disease
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 Design
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Study Type : Observational
Estimated Enrollment : 125 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Longitudinal Characterization of Respiratory Tract Exacerbations and Treatment Responses in Primary Ciliary Dyskinesia
Actual Study Start Date : March 29, 2022
Estimated Primary Completion Date : July 31, 2024
Estimated Study Completion Date : July 31, 2024

Resource links provided by the National Library of Medicine


Groups and Cohorts
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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


Outcome Measures
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Primary Outcome Measures :
  1. Mean FEV1 Percent Predicted Values in Well State and Sick State [ Time Frame: 12 months ]
    Forced expired volume in 1 second (FEV1) will be assessed by percentage of the predicted value (0-100%).

  2. Mean Primary Ciliary Dyskinesia-Quality of Life Score in Well State and Sick State [ Time Frame: 12 months ]
    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.

  3. Mean PCD-Respiratory Symptom Diary Score Well State and Sick State [ Time Frame: 12 months ]
    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).


Biospecimen Retention:   Samples Without DNA
sputum for inflammatory markers

Eligibility Criteria
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Ages Eligible for Study:   6 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Subjects diagnosed with PCD
Criteria

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
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05161858


Contacts
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Contact: Kelli Sullivan, MPH 919-962-9786 kelli_sullivan@med.unc.edu
Contact: Joseph Hatch, MSPH 919-962-4383 hatchjo@email.unc.edu

Locations
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United States, California
Stanford University Not yet recruiting
Palo Alto, California, United States, 94304
Contact: Jackie Spano, DNP    650-721-1132    jmzirbes@stanford.edu   
United States, Colorado
Children's Hospital Colorado Recruiting
Aurora, Colorado, United States, 80045
Contact: Anna Duong    720-777-0946    Anna.Duong@childrenscolorado.org   
Contact: Mary Cross    720-777-4645    mary.cross@childrenscolorado.org   
United States, Missouri
Washington University in St. Louis Recruiting
Saint Louis, Missouri, United States, 63130
Contact: Jane Quante, RN    314-454-2353    quante_j@wustl.edu   
United States, North Carolina
University of North Carolina at Chapel Hill Recruiting
Chapel Hill, North Carolina, United States, 27599
Contact: Nicole Capps, DNP    919-962-9948    nicole_capps@med.unc.edu   
Contact: Kelli Sullivan, MPH    919-962-9786    kelli_sullivan@med.unc.edu   
United States, Washington
Seattle Children's Hospital Recruiting
Seattle, Washington, United States, 98105
Contact: Cisco Pascual    206-884-2648    cisco.pascual@seattlechildrens.org   
Contact: Sharon McNamara    206-987-3921    sharon.mcnamara@seattlechildrens.org   
Canada, Ontario
The Hospital for Sick Children Not yet recruiting
Toronto, Ontario, Canada, M5G 0A4
Contact: Sheryl Hewko    416-813-7865    sheryl.hewko@sickkids.ca   
Canada, Quebec
McGill University Not yet recruiting
Montréal, Quebec, Canada, H4A 3J1
Contact: Sandra Pepin    514-934-1934 ext 23737    sandra.pepin@muhc.mcgill.ca   
Contact: Mylene Roy    514-934-1934 ext 36382    mylene.roy@muhc.mcgill.ca   
Sponsors and Collaborators
University of North Carolina, Chapel Hill
Washington University School of Medicine
Children's Hospital Colorado
Stanford University
Seattle Children's Hospital
The Hospital for Sick Children
McGill University
Children's Hospital Medical Center, Cincinnati
Investigators
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Principal Investigator: Margaret Rosenfeld, MD Seattle Children's Hospital
Principal Investigator: Scott Sagel, MD, PhD Children's Hospital Colorado
More Information
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Responsible Party: University of North Carolina, Chapel Hill
ClinicalTrials.gov Identifier: NCT05161858    
Other Study ID Numbers: 20-0805
First Posted: December 17, 2021    Key Record Dates
Last Update Posted: April 13, 2023
Last Verified: April 2023
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
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.
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.

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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
Additional relevant MeSH terms:
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Ciliary Motility Disorders
Kartagener Syndrome
Dyskinesias
Movement Disorders
Central Nervous System Diseases
Nervous System Diseases
Neurologic Manifestations
Respiratory Tract Diseases
Otorhinolaryngologic Diseases
Ciliopathies
Abnormalities, Multiple
 Congenital Abnormalities
Genetic Diseases, Inborn
Bronchiectasis
Bronchial Diseases
Respiratory System Abnormalities
Dextrocardia
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases
Situs Inversus