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Review
. 2021 Sep 11;22(18):9834.
doi: 10.3390/ijms22189834.

Current and Future Treatments in Primary Ciliary Dyskinesia

Tamara Paff  1 , Heymut Omran  2 , Kim G Nielsen  3   4 , Eric G Haarman  1
Affiliations
Review

Current and Future Treatments in Primary Ciliary Dyskinesia

Tamara Paff et al. Int J Mol Sci. .

Abstract

Primary ciliary dyskinesia (PCD) is a rare genetic ciliopathy in which mucociliary clearance is disturbed by the abnormal motion of cilia or there is a severe reduction in the generation of multiple motile cilia. Lung damage ensues due to recurrent airway infections, sometimes even resulting in respiratory failure. So far, no causative treatment is available and treatment efforts are primarily aimed at improving mucociliary clearance and early treatment of bacterial airway infections. Treatment guidelines are largely based on cystic fibrosis (CF) guidelines, as few studies have been performed on PCD. In this review, we give a detailed overview of the clinical studies performed investigating PCD to date, including three trials and several case reports. In addition, we explore precision medicine approaches in PCD, including gene therapy, mRNA transcript and read-through therapy.

Keywords: genetic; primary ciliary dyskinesia; treatment.

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Conflict of interest statement

The mRNA studies by Heymut Omran were supported by the company Ethris.

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