NCT05685186

A Longitudinal, Observational Study of Primary Ciliary Dyskinesia in Adults

• Status: Active Not Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 50 (estimated)
• Sponsor: ReCode Therapeutics · Industry
• Sex: All
• Age: 18 Years – 60 Years
• Healthy volunteers: Accepted

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.

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.

Conditions

• Primary Ciliary Dyskinesia

Interventions

Type	Name	Description
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

Timeline

• Start date: 2023-03-08
• Primary completion: 2025-04-28
• Completion: 2025-06-30
• First posted: 2023-01-13
• Last updated: 2025-04-29

Locations

1 site across 1 country: United States