PCD Foundation

Cycle 2

Primary ciliary dyskinesia (PCD) is an umbrella term for inherited disorders of the cilia that line the upper and lower respiratory tract including nasal passages, sinuses and lung, and eustachian tubes of the ear, the reproductive organs, and the ventricles of the brain. Ciliary dysfunction prevents the clearance of mucous from the lungs, paranasal sinuses and middle ears. People with PCD may have persistent or recurrent respiratory infections, such as bronchitis and/or pneumonias. Over time, chronic infection results in permanent damage to these areas and, in the case of the lungs, possible respiratory failure. Adults with PCD experience infertility (most males) or sub-fertility (some females). Chronic sinus and ear disease, including hearing loss, are common in PCD.

Last updated 04/30/2025

Clinical
Disease Class
Ciliopathies
Infertility
Respiratory diseases
Body Systems
Muscular / Skeletal
Nervous / Sensory
Reproductive
Respiratory
Organs
Brain
Ears
Heart
Lungs
Nose
Spleen
Stomach
Known Genetic Link
Yes, one or more genes directly cause the condition
causative_genes
CCDC103
CCDC39
CCDC40
CCNO
CFAP298
CFAP57
CFAP74
DNAAF1
DNAAF11
DNAAF2
DNAAF3
DNAAF4
DNAAF5
DNAAF6
DNAH1
DNAH11
DNAH5
DNAH9
DNAI1
DNAI2
DNAL1
DRC1
FOXJ1
GAS2L2
GAS8
HYDIN
LRRC56
MCIDAS
NEK10
NME8
ODAD1
ODAD2
ODAD3
ODAD4
ODAD5 (CLXN)
OFD1
RPGR
RSPH3
RSPH3
RSPH4A
RSPH9
SPAG1
SPEF2
STK36
TP73
TTC12
TUBB4B
ZMYND10
contributory_genes
TAS2R38
Type of Inheritance
Autosomal dominant
Autosomal recessive
De novo
X-linked dominant
X-linked recessive
Newborn Screening
No
Disease Mechanism(s)
Cilia dysfunction
Age of Onset
Prebirth
Average Age at Diagnosis
Middle childhood (6-11)
Life Expectancy
Adulthood (age 18-64)
Infancy (age 0-1)
Pre-Birth
Affected Sex(es)
Female
Intersex
Male
National Prevalence
10000+
Global Prevalence
10000+
National Incidence
11-50
Global Incidence
11-50
Populations and/or ancestry with higher prevalence
Higher rates in regions that are geographically or culturally isolated (island populations, Amish communities, etc). Higher prevalence/incidence based on genetic variant studies in African nations.)
Symptoms / Phenotypes
breathing difficulties
bronchiectasis
excess mucus
hearing loss / hearing impairment
infection, ear / otits media
infection, lung
lung collapse / atelectasis
normal pressure hydrocephalus
Biomarkers
Diagnostic
· Nasal nitric oxide, ciliary ultrastructural analysis via EM
Monitoring
· Lung function, microbes in sputum, imaging
Prognostic
· Lung function, specific gene defects, presence of specific microbes in sputum, severity of bronchiectasis on imaging
Therapeutic
· Mucociliary clearance tracking, lung function testing
Existing Therapies
Off-Label Drug Use
Organizational & Research
Cell Lines
None
Cell Lines, Institution
None
Cell Lines, share
N/A
Disease Model
Mouse
Zebrafish
Disease Model, Involvement
Consulted
Funded
Disease Model, share
Some of our disease models are freely available
Clinical Trial Role
Data sharing
Focus group
Funding
Meeting with regulators
Outcome measures, development
Recruitment and outreach, patients
Recruitment and outreach, trial sites/physicians
Study material design, review (not protocol)
Study protocol design, review
Travel coordination
Biobank, Institution
Colorado Children's
Biobank, Involvement
Consulted
Center of Excellence, Institution
Arkansas Childrens Hospital
Center for Lung Science & Health
Childrens Healthcare of Atlanta
Childrens Hospital at Vanderbilt
Childrens Hospital of Minnesota
Childrens Mercy
Childrens Respiratory and Critical Care Specialists
Childrens of Alabama
Children’s Hospital of Philadelphia (CHOP)
Indiana University
Le Bonheur Childrens Hospital
Lurie Childrens Hospital of Chicago
Maria Fareri Childrens Hospital at Westchester Medical Center
Mott's Childrens Hospital
NYU Langone Hassenfeld Childrens Hospital
National Jewish Health
Nationwide Childrens Hospital
New York Medical College
Northwestern Memorial Hospital
Perelman Center for Advanced Medicine
Rainbow Babies Hospital
Texas Childrens Hospital
University Hospitals of Cleveland
University of Alabama
University of Kansas Medical Center
University of Michigan
University of Texas (UT) Health
University of Virginia Health System
Center of Excellence, Involvement
Consulted
Designed
Endorsed/Certified/Accredited
Funded
Registry
Yes, we have a registry that we created
Data Collected, Registry
Genetic data
Imaging data
Medication usage
Patient-reported outcomes
Prospective data
Retrospective data
Data Entered by, Registry
Clinicians
Platform, Registry
Prometheus
Natural History Study
Yes, we have a natural history study that we created
Data Collected, Natural History Study
Clinical endpoints (outcomes)
Genetic data
Imaging data
Medication usage
Patient-reported outcomes
Prospective data
Retrospective data
Platform, Natural History Study
REDCap
FDA Patient Listening Session
Yes
FDA Patient-Focused Drug Development (PFDD) Program
We have taken formal steps to schedule a meeting
ICD Codes
We are working on obtaining an ICD-10 code
Diagnostic Guidelines
Yes, we have published formal guidelines in a peer-reviewed journal
Yes, we have accredited guidelines
Science Advisory Board Policies
Yes, willing to share SAB policies
Research Network Policies
Has CRN and willing to share policies
Research Roadmap
Yes we have a Research Roadmap, and will share policies
International Chapters
None
International Partners
Europe
Middle East
North America
Oceania
South America