Observational study on Primary Ciliary Dyskinesia

Primary Ciliary Dyskinesias: Identification of Specific Severity Criteria and Phenotype-genotype Correlation Study

Observational Institut National de la Santé Et de la Recherche Médicale, France · NCT05951478

This study looks at people with Primary Ciliary Dyskinesia to see what factors might affect how severe their condition is and to help improve their care.

Quick facts

Study typeObservational
Enrollment300 (estimated)
SexAll
SponsorInstitut National de la Santé Et de la Recherche Médicale, France Government
Locations32 sites (Besançon and 31 other locations)
Trial IDNCT05951478 on ClinicalTrials.gov

What this trial studies

This observational study focuses on Primary Ciliary Dyskinesia (PCD), a rare respiratory disease caused by defects in cilia that affect mucociliary clearance. It aims to identify predictive factors of disease severity by analyzing patients with confirmed diagnoses, including those with Kartagener's syndrome or specific ciliary ultrastructure anomalies. Participants will be monitored through annual follow-up visits to gather data on their condition and progression. The study seeks to enhance understanding of PCD and improve patient management.

Who should consider this trial

Good fit: Ideal candidates include patients with a confirmed diagnosis of PCD, such as those with Kartagener's syndrome or specific ciliary anomalies.

Not a fit: Patients with an unconfirmed diagnosis of PCD or those with other evolving conditions that may interfere with PCD assessments may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to better management strategies and improved outcomes for patients with Primary Ciliary Dyskinesia.

How similar studies have performed: While there have been studies on PCD, this specific observational approach focusing on predictive factors of severity is relatively novel.

Eligibility criteria

Show full inclusion / exclusion criteria
Inclusion Criteria:

* Patient fulfilling at least one of the following criteria for PCD confirmed diagnosis: Kartagener's syndrome and/or specific anomaly of the ciliary ultrastructure and/or an unambiguous mutation in a PCD gene
* Having at least one annual follow-up visit

Non-inclusion Criteria:

* Patients with an unconfirmed diagnosis of PCD
* Patients with an evolving concomitant pathology that may interfere with the assessment of PCD-related manifestations

Where this trial is running

Besançon and 31 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions Primary Ciliary Dyskinesia
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.