Proceedings of the COST action BM1407 inaugural conference BEAT-PCD: translational research in primary ciliary dyskinesia - bench, bedside, and population perspectives.

Sylvia Nyilas,Panayiotis Kouis,Jane S. Lucas,Philipp Latzin,Myrofora Goutaki,Kim Nielsen,Claire Hogg,Laura Behan,Bruna Rubbo,Claudia E. Kuehni,Dominic Norris,Eleonora Dehlink,Mareike Price

doi:10.1186/s12919-016-0067-0

Abstract

Primary ciliary dyskinesia (PCD) is a rare heterogenous condition that causes progressive suppurative lung disease, chronic rhinosinusitis, chronic otitis media, infertility and abnormal situs. ‘Better Experimental Approaches to Treat Primary Ciliary Dyskinesia’ (BEAT-PCD) is a network of scientists and clinicians coordinating research from basic science through to clinical care with the intention of developing treatments and diagnostics that lead to improved long-term outcomes for patients. BEAT-PCD activities are supported by EU Framework Programme Horizon 2020 funded COST Action (BM1407). The Inaugural Conference of BEAT-PCD was held in December 2015 in Southampton, UK. The conference attracted ninety-six scientists, clinicians, allied health professionals, industrial partners and patient representatives from twenty countries. We aimed to identify the needs for PCD research and clinical care, particularly focussing on basic science, epidemiology, diagnostic testing, clinical management and clinical trials. The multidisciplinary conference provided an interactive platform for exchanging ideas through a program of lectures, poster presentations, breakout sessions and workshops. This allowed us to develop plans for collaborative studies. In this report, we summarize the meeting, highlight developments, and discuss open questions thereby documenting ongoing developments in the field of PCD research.

Highlights

primary ciliary dyskinesia (PCD) is a rare heterogeneous disorder characterized by impaired mucociliary clearance due to abnormal ciliary function, which is usually but not always associated with abnormal ciliary ultrastructure [1, 2]
Diagnosis is currently based on combination testing, which normally includes nasal nitric oxide measurements, ciliary beat frequency (CBF) and pattern (CBP) using high-speed video microscopy analysis (HSVMA), ultrastructural defects using transmission electron microscopy (TEM), and genetic testing [10]
As for other rare diseases the evidence base for PCD is sparse and there has been little clinical or translational research, with treatment strategies inappropriately extrapolated from other diseases [10, 12, 13] e.g., treatments for lung manifestations are derived from cystic fibrosis (CF) guidelines despite different pathophysiology

Summary

Open Access

Proceedings of the COST action BM1407 inaugural conference BEAT-PCD: translational research in primary ciliary dyskinesia - bench, bedside, and population perspectives. From BEAT-PCD: Translational research in primary ciliary dyskinesia - bench, bedside, and population perspectives Southampton, UK. 7-9 December 2015

Introduction

Poster title

Findings

Evidence for seasonal variation in ciliation of airway epithelial cells