Evaluation of Open-Source Ciliary Analysis Software in Primary Ciliary Dyskinesia: A Comparative Assessment

Area of Science:

• * Respiratory Medicine
• * Genetics
• * Biophysics

Background:

• * Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder affecting motile cilia.
• * Diagnosing PCD is challenging due to a lack of standardized clinical methods.
• * High-speed video microscopy analysis (HSVA) is crucial for evaluating ciliary beat frequency (CBF).

Purpose of the Study:

• * To compare the performance of two open-source software applications, CiliarMove and Cilialyzer, for measuring CBF in PCD.
• * To evaluate the accuracy of these software tools against manual counting methods.
• * To assess their utility in differentiating PCD patients from healthy controls.

Main Methods:

• * High-speed video microscopy analysis (HSVA) of nasal ciliary brush samples.
• * Comparison of CiliarMove (v219) and Cilialyzer (v1.2.1-b3098cb) against manual CBF counting.
• * Analysis of samples from PCD patients with the RSPH4A genetic variant and healthy controls.

Main Results:

• * Both CiliarMove and Cilialyzer accurately identified lower median CBF in PCD (RSPH4A) patients compared to healthy controls.
• * All three methods (CiliarMove, Cilialyzer, manual count) showed statistically significant differences in median CBF (p < 0.0001).
• * Positive linear correlations were observed between software-based and manual CBF measurements.

Conclusions:

• * Open-source software applications like CiliarMove and Cilialyzer are effective tools for measuring CBF in PCD diagnosis.
• * These tools demonstrate comparable performance to manual counting methods.
• * Further research is needed to validate these findings across diverse genetic variants of PCD.