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. 2021 Nov 29;7(4):00320-2021.
doi: 10.1183/23120541.00320-2021. eCollection 2021 Oct.

Lower airway clinical outcome measures for use in primary ciliary dyskinesia research: a scoping review

Florian Gahleitner  1   2 , James Thompson  1   3 , Claire L Jackson  1   3 , Jana F Hueppe  1   3 , Laura Behan  1   3 , Eleonora Dehlink  4 , Myrofora Goutaki  5   6 , Florian Halbeisen  5   6   7 , Ana Paula L Queiroz  3 , Guillaume Thouvenin  8 , Claudia E Kuehni  5   6 , Philipp Latzin  5   6 , Jane S Lucas  1   3 , Bruna Rubbo  1   3   9
Affiliations

Lower airway clinical outcome measures for use in primary ciliary dyskinesia research: a scoping review

Florian Gahleitner et al. ERJ Open Res. .

Abstract

Objectives: Disease-specific, well-defined and validated clinical outcome measures are essential in designing research studies. Poorly defined outcome measures hamper pooling of data and comparisons between studies. We aimed to identify and describe pulmonary outcome measures that could be used for follow-up of patients with primary ciliary dyskinesia (PCD).

Methods: We conducted a scoping review by systematically searching MEDLINE, Embase and the Cochrane Database of Systematic Reviews online databases for studies published from 1996 to 2020 that included ≥10 PCD adult and/or paediatric patients.

Results: We included 102 studies (7289 patients). 83 studies reported on spirometry, 11 on body plethysmography, 15 on multiple-breath washout, 36 on high-resolution computed tomography (HRCT), 57 on microbiology and 17 on health-related quality of life. Measurement and reporting of outcomes varied considerably between studies (e.g. different scoring systems for chest HRCT scans). Additionally, definitions of outcome measures varied (e.g. definition of chronic colonisation by respiratory pathogen), impeding direct comparisons of results.

Conclusions: This review highlights the need for standardisation of measurements and reporting of outcome measures to enable comparisons between studies. Defining a core set of clinical outcome measures is necessary to ensure reproducibility of results and for use in future trials and prospective cohorts.

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Conflict of interest statement

Conflict of interest: M. Goutaki and C.E. Kuehni report that the BEAT-PCD COST Action supported their travel to and attendance of meetings during the period 2015–2019. P. Latzin reports personal fees from Vertex, Novartis, Roche, Polyphor, Vifor, Gilead, Schwabe, Zambon and Santhera, and grants from Vertex, outside the submitted work. J.S. Lucas reports that on 2 December 2019 she attended the Rare Lung and Airway Diseases on Childhood meeting at the Primary Ciliary Dyskinesia and Neonatal Interstitial Lung Diseases Conference in Jerusalem, Israel, to deliver an invited lecture on monitoring disease progression in PCD; her local travel and accommodation were arranged by the conference organisers, and her international travel was supported by BEAT-PCD. All other authors have nothing to disclose.

Figures

FIGURE 1
FIGURE 1
Number of studies that reported outcome measures in primary ciliary dyskinesia as either study outcome or population descriptor. Studies often reported on more than one outcome measure and might therefore be featured in more than one instance. MBW: multiple-breath washout; HRCT: high-resolution computed tomography; CT: computed tomography; MRI: magnetic resonance imaging; HRQoL: health-related quality of life.
FIGURE 2
FIGURE 2
Number of studies that reported forced expiratory volume in 1 s as study outcomes or population descriptors (n=83). Circles are coloured according to the spirometric indices presented in the studies.
FIGURE 3
FIGURE 3
High-resolution computed tomography (HRCT) and computed tomography (CT) outcome measures from 23 studies that reported on HRCT/CT scans as study outcomes and had sufficient data on scoring system adopted. Stacked bars represent the number of studies that reported on each subscore component. P: present; A: absent.
FIGURE 4
FIGURE 4
Correlations or associations between outcomes measures. Connections between circles depicts the correlated outcomes, with the size of each circle representing the number of studies that reported correlations or associations of that particular outcome. MBW: multiple-breath washout; HRQoL: health-related quality of life; MRI: magnetic resonance imaging; HRCT: high-resolution computed tomography; CT: computed tomography.
See this image and copyright information in PMC

References

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    1. Lucas JS, Walker WT, Kuehni CE, et al. . Primary ciliary dyskinesia. In: Cordier JF, ed. Orphan Lung Diseases (ERS Monograph). Sheffield, European Respiratory Society, 2011; pp. 201–217.
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    1. Kuehni CE, Goutaki M, Rubbo B, et al. . Management of primary ciliary dyskinesia: current practice and future perspectives. In: Chalmers JD, Polverino E, Aliberti S, eds. Bronchiectasis (ERS Monograph). Sheffield, European Respiratory Society, 2018; pp. 282–299.

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