Respiratory

Primary Ciliary Dyskinesia

Also known as PCD, immotile cilia syndrome, Kartagener syndrome

Primary ciliary dyskinesia is a genetically heterogeneous disorder caused by defects in the structure or function of motile cilia, impairing mucociliary clearance throughout the airways, sinuses, and reproductive tract. Approximately 50% of

ORPHA:244 ↗Gene DNAI1Gene DNAH5Gene DNAH11 (multiple)Prevalence Approximately 1 in 10,000–20,000 live birthsOnset Neonatal / Early childhood

17

studies recruiting now

as of 7 Sept 2026

81

studies registered in total

as of 7 Sept 2026

2

countries with a recruiting site

as of 7 Sept 2026

5 May 2026

most recent study posted

among recruiting studies

Recruiting trials

Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.

See all 17 recruiting studies

Where recruiting studies are running

Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.

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Patient organisations

PCD FoundationPatient association
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Registry: BESTCILIA PCD Registry · Join ↗. Registries connect patients to researchers and often hear about trials first.

About Primary Ciliary Dyskinesia

Primary ciliary dyskinesia is a genetically heterogeneous disorder caused by defects in the structure or function of motile cilia, impairing mucociliary clearance throughout the airways, sinuses, and reproductive tract. Approximately 50% of patients have situs inversus (Kartagener syndrome) due to randomised organ lateralisation during embryogenesis. The disease leads to chronic sino-pulmonary infections and progressive bronchiectasis if not managed aggressively.

Common clinical features

Neonatal respiratory distressChronic productive cough from infancyRecurrent sinusitis and otitis mediaBronchiectasisSitus inversus or heterotaxy (in ~50%)Male infertility due to immotile spermReduced nasal nitric oxide

From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.

Treatments being studied

5 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.

Phase 2Ivacaftor (Ivacaftor component of orkambi)
Phase 2Idrevloride
Phase 2Sodium Chloride (Aqsia (balanced salt soln))
Phase 2Melatonin (Circadin)
Phase 1 (early)Albuterol (Aerolin)

Before you apply

Things trial teams commonly ask about for Primary Ciliary Dyskinesia. Not eligibility rules; those are set by each study.

  • Genetic confirmation or nasal nitric oxide measurement below accepted thresholds is commonly required for enrolment; gather diagnostic test results before applying.
  • Many trials stratify by specific gene mutation (e.g., DNAI1 vs. DNAH5); confirm your genotype with a certified genetics laboratory.
  • Some studies require a stable pulmonary status for 4–6 weeks prior to enrolment, so avoid applying during an active exacerbation.

Related conditions

Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).