A Study Of Patients With Primary Ciliary Dyskinesia

Overview

About this study

The purpose of this study is to establish a secure electronic repository of clinical information of patients with a confirmed or probable diagnosis of PCD.

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Inclusion Criteria:

  • Age 0-90 years

  • Documentation of confirmed diagnosis of PCD.  For the pilot, diagnosis by either hallmark ciliary ultrastructure abnormality confirmed at a PCD expert site OR two known disease-causing mutations in a known PCD gene.  For subsequent enrollment individuals diagnosed by low nNO testing (<77nl/min) on two separate occasions at least two months apart plus a compatible clinical phenotype will also be included

  • Written informed consent, and assent for minors as applicable

  • Followed as a patient at a PCD Foundation Clinical and Research Network center in North America

Exclusion Criteria:

  • Inability to understand the requirements of the study or be unwilling to provide written informed consent (as evidenced by signature on an informed consent document approved by the IRB) OR inability of parent/guardian to understand the requirements of the study

Note: Other protocol defined Inclusion/Exclusion Criteria may apply.

Eligibility last updated 11/05/2025. Questions regarding updates should be directed to the study team contact.

Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location Status

Rochester, Minn.

Mayo Clinic principal investigator

Sarah Chalmers, M.D.

Contact us for the latest status

Jacksonville, Fla.

Mayo Clinic principal investigator

Sarah Chalmers, M.D.

Contact us for the latest status

More information

Publications

Publications are currently not available
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CLS-20606768

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