PCD Foundation

Cycle 2

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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 04/30/2026

Clinical

Disease Class

Ciliopathies

Multi-system genetic syndromes

Otorhinolaryngological diseases

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

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

Disease Mechanism(s)

Cilia dysfunction

Other

Age of Onset

Prebirth

Average Age at Diagnosis

Adolescence (12-17)

Adulthood (age 18-64)

Early childhood (age 1+-5)

Middle childhood (6-11)

Life Expectancy

Adulthood (age 18-64)

Elderly (age 65+)

Infancy (age 0-1)

Pre-Birth

Affected Sex(es)

Female

Intersex

Male

National Prevalence

10000+

Global Prevalence

10000+

National Incidence

Less than 10

Global Incidence

Less than 10

Populations and/or ancestry with higher prevalence

Known significantly higher incidence/prevalence in Native Canadian and Danish populations, Amish/Mennonite populations in the US, Middle Eastern populations in the UK.

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

· Hallmark ciliary defects on EM, low nasal nitric oxide, situs anomalies

Monitoring

· Characteristic pattern of atelectasis/bronchiectasis,

Other

· There are biomarkers for PCD not yet validated, including cough in newborn period, distinct sounding cough throughout the lifespan

Prognostic

· Outcomes predicted by genotype including CCDC39/40 and CCNO (worse outcomes) RSPH1 and DNAH11 (may have milder disease)

Existing Therapies

Complementary and Alternative treatments

· Acetylcysteine OTC

Off-Label Drug Use

Regulatory Agency-Approved for Symptom Relief

· Azithromycin prophylaxis, Brinsupri for bronchiectasis, standard respiratory inhalers and nebs.

Therapies in Development

Antibody-based therapy (monoclonal antibodies, biologics)

· Interest in developing IL-33 monoclonal antibody for PCD, in very early development stage

Gene therapy

RNA interference (RNAi) therapy (siRNA, etc.)

· Completed Phase 1B trial of mRNA therapy for PCD caused by DNAI1 variants (ReCode)

Therapeutic Development Stages

Approved/Available

In preclinical development

Therapeutic Development Role

Data analysis

Focus group participation or coordination

Recruitment and outreach to patients

Results dissemination (including publications)

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

Organizational Challenges

Patient recruitment for gene-specific therapies in PCD is extremely challenging. Outcome measures for interventional trials that include many underlying disorders (like Brinsupri) are often not helpful in PCD, e.g. to determine drug efficacy for exacerbations, cough mitigation is often a desired outcome, but people with PCD and no mucociliary clearance rely on cough clearance and more coughing is not necessarily a bad thing in PCD. We need better PCD-specific outcome measures.

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

Clinical Trial Types

Observational

Phase 1

Phase 2

Biobank, Institution

Colorado Children's

Biobank, Involvement

Funded

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)

Emory University

Indiana University

Intermountain Medical Center

Joe DiMaggio Children’s Hospital

Johns Hopkins Hospital

Le Bonheur Childrens Hospital

Lurie Childrens Hospital of Chicago

Maria Fareri Childrens Hospital at Westchester Medical Center

Mayo Clinic Jacksonville

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 Nebraska

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

Clinical data

Genetic data

Imaging data

Longitudinal natural history data

Medication usage

Patient contact info

Patient-reported data

Data Entered by, Registry

Clinicians

Platform, Registry

REDCap

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

No, we do not have any ICD codes

Diagnostic Guidelines

Yes, we have published formal guidelines in a peer-reviewed journal

Science Advisory Board Policies

Yes, willing to share SAB policies

Research Network Policies

Has CRN but no policies

Patient Priority Survey

Yes

Patient Priority Survey, share

Yes, will share

Research Roadmap

We don't have a Research Roadmap

None

Africa

Europe

North America

Oceania

South America

Europe

North America