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

Primary Ciliary Dyskinesia Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05161858
• Other study ID #: 20-0805
• Status: Recruiting
• Start date: March 29, 2022
• Est. completion date: July 31, 2024

Study information

• Verified date: April 2024
• Source: University of North Carolina, Chapel Hill
• Contact: Kelli Sullivan, MPH
• Phone: 919-962-9786
• Email: kelli_sullivan[@]med.unc.edu
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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).

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 125
• Est. completion date: July 31, 2024
• Est. primary completion date: July 31, 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: 6 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Ciliary Motility Disorders
• Dyskinesias
• Kartagener Syndrome
• Primary Ciliary Dyskinesia

Locations

Country	Name	City	State
Canada	McGill University	Montréal	Quebec
Canada	The Hospital for Sick Children	Toronto	Ontario
United States	Children's Hospital Colorado	Aurora	Colorado
United States	University of North Carolina at Chapel Hill	Chapel Hill	North Carolina
United States	Stanford University	Palo Alto	California
United States	Washington University in St. Louis	Saint Louis	Missouri
United States	Seattle Children's Hospital	Seattle	Washington

Sponsors (8)

Lead Sponsor	Collaborator
University of North Carolina, Chapel Hill	Children's Hospital Colorado, Children's Hospital Medical Center, Cincinnati, McGill University, Seattle Children's Hospital, Stanford University, The Hospital for Sick Children, Washington University School of Medicine

Countries where clinical trial is conducted

United States,  Canada, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Primary	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
Primary	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