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 May 2024

Clinical

Disease Class

Rare cardiac malformations

Rare genetic diseases

Rare infertility

Rare respiratory diseases

Body Systems

Muscular / Skeletal

Nervous / Sensory

Reproductive

Respiratory

Organs

Brain

Ears

Heart

Lungs

Nose

Spleen

Stomach

Genes

CCDC103

CCDC39

CCDC40

CCDC65

CCNO

CFAP221

CFAP298

CFAP300

CFAP57

DNAAF1

DNAAF11

DNAAF2

DNAAF3

DNAAF4

DNAAF5

DNAAF6

DNAH1

DNAH11

DNAH5

DNAH8

DNAH9

DNAI1

DNAI2

DNAJB13

DNAL1

DRC1

FOXJ1

GAS2L2

GAS8

HYDIN

LRRC56

MCIDAS

NEK10

NME5

NME8

ODAD1

ODAD2

ODAD3

ODAD4

ODAD5 (CLXN)

OFD1

RPGR

RSPH1

RSPH3

RSPH4A

RSPH9

SPAG1

SPEF2

STK36

TP73

TTC12

ZMYND10

Type of Inheritance

Autosomal dominant

Autosomal recessive

De novo

X-linked recessive

Disease Mechanism(s)

Cilia dysfunction

Pathogenic mutation

Protein misfolding

Age of Onset

Prebirth

Incidence

101-1000

Prevalence

10000+

Populations and/or ancestry with higher prevalence

Geographically or culturally isolated communities, communities where familial intermarriage is practiced, several founder mutations identified in first nations/native American populations and in island populations (Puerto Rico and the Faroe Islands for example)

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

Alternative treatments (eg. nutritional supplements)

· L-arginine, L-acetylcysteine

Drugs used off-label

· Inhaled and oral antibiotics, anti-inflammatories and anti-fungals, mucus thinners and osmotic agents, ear drops, acetylcysteine

Organizational & Research

Cell Lines

Not specified / unknown

Cell Lines, location

Not specified

Cell Lines, share

N/A

Disease Model

Mouse

Zebrafish

Disease Model, location

McGill University Health Centre

University of North Carolina (UNC)

Disease Model, share

Unknown

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

None

Center of Excellence

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

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

Genetic data

Imaging data

Medication usage

Patient-reported outcomes

Prospective data

Retrospective data

Platform, Natural History Study

Prometheus

FDA Patient Listening Session

Yes

FDA Patient-Focused Drug Development (PFDD) Program

ICD Codes

We are working on obtaining an ICD-10 code

We are working on obtaining an ICD-11 code

Diagnostic Guidelines

Yes

Clinical/Treatment Guidelines

Organizational Roles

Director of Operations/Director of Development

Executive Director

Registry Coordinator

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

Africa

Europe

North America

Oceania

South America