Primary Ciliary Dyskinesia Research Program

Primary ciliary dyskinesia (PCD) is a rare genetic disorder of mucociliary clearance characterized by recurrent infections of the airways, sinuses and ears and progressive structural lung disease. PCD is challenging to diagnose, and disease progression is highly variable.

The Primary Ciliary Dyskinesia Research Program aims to improve the diagnosis of PCD, delineate genotype-phenotype associations, understand risk factors for disease progression and develop endpoints for clinical trials in people with PCD.

The research program has been one of eight sites in the NIH-funded Genetic Disorders of Mucociliary Consortium (GDMCC) since its inception in 2006. GDMCC research has significantly advanced our understanding of PCD diagnosis and care. The team also works closely with the PCD Foundation.

 

 

Featured Research

Defining the Genetic Etiology of Suppurative Lung Disease in Children and Adults

A multicenter, observational, cross-sectional study, utilizes a standard diagnostic approach to establishing a genetic diagnosis of PCD or IEI in children and adults.

Respiratory Tract Exacerbations and Treatment Response in PCD

This study is an ongoing prospective, multicenter observational study leveraging remote monitoring technologies and sample collection to characterize exacerbations in children and adults with PCD.

State-of-the-Art Scoring system for Chest CT Scans in PCD

Evaluating two novel chest CT scoring tools for evaluating structural lung disease in children with PCD: the manual Melbourne-Rotterdam Annotated Grid Morphometric Analysis for PCD (MERAGMA-PCD) CT scoring system and the fully automated (AI) bronchial-artery (BA-LungQ).

PCD Foundation Registry: A Longitudinal Study of Patients With Primary Ciliary Dyskinesia

A prospective, multicenter natural history observational study collecting clinical and demographic information with patient-reported data to improve PCD diagnostics, clinical care, quality of life and patient-important outcomes.