Genetics of Primary Ciliary Dyskinesia (NCT02389049) | Clinical Trial Compass
CompletedNot Applicable
Genetics of Primary Ciliary Dyskinesia
United States320 participantsStarted 2015-02
Plain-language summary
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.
Who can participate
SexALL
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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion Criteria:
* 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
Exclusion Criteria:
* 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.
What they're measuring
1
Confirm PCD diagnosis in patients using a panel of 32 genes