A Longitudinal, Observational Study of Primary Ciliary Dyskinesia in Adults

April 27, 2023 updated by: ReCode Therapeutics
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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Detailed Description

Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disease characterized by progressive upper and lower respiratory tract infections and inflammation caused by impaired mucociliary clearance (MCC). While longitudinal studies of children and adolescents with PCD have informed the early natural history of lung disease, there remains a knowledge gap in disease characteristics and progression in adults. There are no prospective published data evaluating the natural history of airway morbidity and mortality in adults, and little is known about the optimal clinical measures and biomarkers to evaluate disease progression. Cohort studies are needed to understand clinical measures and biomarkers across the lifespan of people with PCD, distinguish disease subtypes, and define endpoint variability. Natural history studies are critical for designing future clinical trials. New therapies have lagged in part due to lack of clear clinical biomarkers for adults.

The overarching goal is to characterize clinical measures and biomarkers of airway disease in adults with PCD. In addition, a subset of these clinical measures and biomarkers will be collected in a group of healthy volunteers (HV) to establish normative values.

Study Type

Observational

Enrollment (Anticipated)

50

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • United States
    • North Carolina
      • Chapel Hill, North Carolina, United States, 27599
        • Recruiting
        • University Of North Carolina At Chapel Hill
        • Contact:
        • Principal Investigator:
          • Stephanie D Davis, MD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years to 60 years (Adult)

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

Individuals with a diagnosis of Primary Ciliary Dyskinesia and healthy volunteers

Description

Inclusion Criteria:

  • 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

Exclusion Criteria:

  • 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).

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
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
To assess lung function
Diagnostic test: Multiple Breath Washout (MBW)
To measure Lung Clearance Index (LCI)
Diagnostic test: Mucociliary Clearance (MCC)
To measure lung clearance after the inhalation of radiolabeled particles
Diagnostic test: CT of the chest
Low radiation to assess structural lung disease
Diagnostic test: MRI of the chest
To assess lung function and structural lung disease
Healthy Volunteer Cohort
The healthy volunteer cohort will include health individuals.
Diagnostic test: Spirometry
To assess lung function
Diagnostic test: Mucociliary Clearance (MCC)
To measure lung clearance after the inhalation of radiolabeled particles
Diagnostic test: MRI of the chest
To assess lung function and structural lung disease

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Descriptive Analysis
Time Frame: From Baseline Through Week 52
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 52
From Baseline Through Week 52

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

ReCode Therapeutics

Collaborators

University of North Carolina, Chapel Hill

Investigators

  • Study Director: Priya Ryali, ReCode Therapeutics
  • Principal Investigator: Stephanie Davis, UNC Chapel Hill

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 Major Dates

Study Start (Actual)

March 8, 2023

Primary Completion (Anticipated)

December 20, 2026

Study Completion (Anticipated)

May 20, 2027

Study Registration Dates

First Submitted

December 19, 2022

First Submitted That Met QC Criteria

January 5, 2023

First Posted (Actual)

January 13, 2023

Study Record Updates

Last Update Posted (Actual)

May 1, 2023

Last Update Submitted That Met QC Criteria

April 27, 2023

Last Verified

April 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • RCTAX001

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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