A Longitudinal, Observational Study of Primary Ciliary Dyskinesia in Adults

NCT05685186 | Completed

• 1 other identifier: RCTAX001
• Study Type: observational
• Target: 31
• Locations: 1 country
• Sites: 1

Brief Summary

The goal of this observational study is to characterize clinical measures and biomarkers of airway disease in adults with primary ciliary dyskinesia (PCD) and in a group of healthy volunteers (HV) to establish normative values. Lung function, mucociliary clearance, radiological findings, and clinical findings will be assessed. Furthermore, quality of life will be assessed using QOL-PCD, a disease specific questionnaire.

Conditions

Primary Ciliary Dyskinesia

Keywords

PCD; Primary Ciliary Dyskinesia; Kartagener Syndrome

Outcome Measures

Primary Outcomes (1)

• Descriptive Analysis

  Descriptive statistical methods will be applied to analyze: lung function, measure % predicated (pp) FEV1. Absolute Change From Baseline in Percent Predicted Forced Expiratory Volume in 1 Second (ppFEV1) Through Week 26

  From Baseline Through Week 26

Study Arms (2)

PCD Cohort

The PCD cohort will include individuals who have a genetically confirmed diagnosis of PCD with 2 identified pathogenetic variants within 1 of 4 genetic/ultrastructural variants: * DNAI1 ODA defect * Other ODA defect * IDA-MTD defect, CCDC39 or CCDC40 * Radial Spoke defect

Diagnostic Test: Spirometry; Diagnostic Test: Multiple Breath Washout (MBW); Diagnostic Test: Mucociliary Clearance (MCC); Diagnostic Test: CT of the chest; Diagnostic Test: MRI of the chest

Healthy Volunteer Cohort

The healthy volunteer cohort will include health individuals.

Diagnostic Test: Spirometry; Diagnostic Test: Mucociliary Clearance (MCC); Diagnostic Test: MRI of the chest

Interventions

Spirometry DIAGNOSTIC_TEST

To assess lung function

Healthy Volunteer Cohort; PCD Cohort

Multiple Breath Washout (MBW) DIAGNOSTIC_TEST

To measure Lung Clearance Index (LCI)

PCD Cohort

Mucociliary Clearance (MCC) DIAGNOSTIC_TEST

To measure lung clearance after the inhalation of radiolabeled particles

Healthy Volunteer Cohort; PCD Cohort

CT of the chest DIAGNOSTIC_TEST

Low radiation to assess structural lung disease

PCD Cohort

MRI of the chest DIAGNOSTIC_TEST

To assess lung function and structural lung disease

Healthy Volunteer Cohort; PCD Cohort

Eligibility Criteria

• Age: 18 Years - 60 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Individuals with a diagnosis of Primary Ciliary Dyskinesia and healthy volunteers

You may qualify if:

• PCD diagnosis with confirmation of 2 identified pathogenic genetic variants within 1 of the following ultrastructure variants:
• DNAI1 ODA defect
• Other ODA defect
• IDA - MTD defect
• RS defect
• Informed consent

You may not qualify if:

• Are a current smoker (e-cigarette, tobacco, or marijuana)
• Are a former smoker who discontinued smoking \<1 year prior to enrollment or has a cumulative 1+ pack-year smoking history
• Have a recent stable forced expiratory volume in one second (FEV1) \<35% predicted
• Have contraindications for MRI studies (implanted devices/materials; inability to tolerate; claustrophobia or severe anxiety that would preclude MRI/imaging)
• Have had a significant clinical radiation exposure (as determined by the investigator) within the past 6 months. Potential participants who have had a chest CT within the past 6 months may be eligible to be enrolled and their clinical CT will be utilized as the baseline for this study
• Are pregnant or breastfeeding
• Have any comorbidities likely to impact lung function (e.g., complex congenital heart disease, severe scoliosis, diseases involving immune dysregulation, lung transplantation, lung lobectomy, end-stage renal disease, or poor overall health status).

Sponsors & Collaborators

• ReCode Therapeutics: lead
• University of North Carolina, Chapel Hill: collaborator

Study Sites (1)

University of North Carolina at Chapel Hill

Chapel Hill, North Carolina, 27599, United States

Location

MeSH Terms

Conditions

Ciliary Motility Disorders; Kartagener Syndrome

Interventions

Spirometry; Mucociliary Clearance

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

Intervention Hierarchy (Ancestors)

Respiratory Function Tests; Diagnostic Techniques, Respiratory System; Diagnostic Techniques and Procedures; Diagnosis; Respiratory Physiological Phenomena; Circulatory and Respiratory Physiological Phenomena

Study Officials

• Priya Ryali

  ReCode Therapeutics

  STUDY DIRECTOR

• Stephanie Davis

  UNC Chapel Hill

  PRINCIPAL INVESTIGATOR

Study Design

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

Study Record Dates

• First Submitted: December 19, 2022
• First Posted: January 13, 2023
• Study Start: March 8, 2023
• Primary Completion: April 28, 2025
• Study Completion: June 30, 2025
• Last Updated: May 4, 2026

Record last verified: 2026-04

Locations

US (1)