Genetics of Primary Ciliary Dyskinesia

Completed

Conditions studied: Primary Ciliary Dyskinesia, Kartagener Syndrome

In brief

This study is designed to study DNA sequencings for mutations in a research genetic test panel of genes (which contains all 32 known and/or published genes associated with PCD). The study aims to show that about 70% of PCD patients have biallelic mutations in one of these genes. This project will enroll patients who have already had a clinical evaluation, and have clinical features consistent with PCD.

Key facts

Study ID: NCT02389049
Run by: University of North Carolina, Chapel Hill
People needed: 320
Starts: 2015-02-01
Expected to finish: 2018-07-01
Last updated by the study team: 2022-08-10

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

Any patient who has ≥ 2 clinical features (+/- lab) characteristic of PCD, including:
Neonatal respiratory distress after term (or near-term) birth
and/or laterality defect ( situs inversus or heterotaxy)
and/or daily wet cough before 6 months of age
and/or middle ear disease
and/or chronic nasal congestion before 6 months of age
and/or bronchiectasis
and/or male infertility due to sperm tail dysfunction
and/or low nasal nitric oxide levels (<77 nanoliters/minute)
and/or defective ciliary ultrastructure

You may not qualify if…

Known diagnosis of cystic fibrosis with classic clinical presentation and elevated sweat chloride levels and/or two known disease-causing Cystic Fibrosis transmembrane conductance regulator (CFTR) mutations, or documented primary or acquired immunodeficiency.
Known explanation for bronchiectasis (and other clinical features), such as α1-antitrypsin deficiency (ZZ or ZS), inflammatory bowel disease or rheumatoid arthritis.
Any patient who is unwilling or unable to provide consent or to comply with the testing required in this protocol
A participant should not be in the study if they have not had a standard clinical evaluation to address other potential causes of chronic oto-sino- pulmonary disease.

Where it is running

Stanford University — Palo Alto, California, United States
The Children's Hospital, Denver — Aurora, Colorado, United States
Riley Hospital for Children — Indianapolis, Indiana, United States
Washington University, St. Louis — St Louis, Missouri, United States
The University of North Carolina at Chapel Hill — Chapel Hill, North Carolina, United States
Children's Hospital and Regional Medical Center, Seattle — Seattle, Washington, United States
The Hospital for Sick Children — Toronto, Ontario, Canada
McGill University — Montreal, Quebec, Canada

Full record on ClinicalTrials.gov

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