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5905: Research Genetic Testing for Primary Ciliary Dyskinesia Using a Panel of Genes

The purpose of this research study is to test patients with known or suspected (possible) Primary Ciliary Dyskinesia (PCD) for genetic mutations (genes that develop differently) that cause PCD. These patients will be identified, and enrolled by clinical and lab evaluation by one of the participating clinical research sites. People with PCD cannot effectively get mucus out of their lungs, which leads to many bronchial infections.

This study is for the following diseases:

  • Primary Ciliary Dyskinesia
  • Kartagener Syndrome


Primary Ciliary Dyskinesia (PCD) is a genetic disorder of the cilia. Cilia are tiny, microscopic structures that line the airways, ears, sinuses and some other structures. The sweeping movement of cilia is important for keeping these areas free from infection. The purpose of the study is to learn which genetic mutations cause Primary Ciliary Dyskinesia.

The research questions are:

To see how many patients with PCD have genetic mutations, versus those patients who have some clinical signs of PCD, but do not have all of the signs of PCD (eg, they have "Probable or possible PCD")

About this Study

This is an observational study of ~ 280 participants with known or suspected PCD, who will go through genetic testing for PCD. Over a 5-year period, participants who have clinical and lab features characteristic of PCD (signs that seem like PCD) will join the study. A one-time study visit is required and the visit will last about 40 minutes. In the event that follow- up is needed, you may be contacted after the first visit. The research visit will take place at one of the participating institutions.

During this study, these things will happen:

  1. Blood will be drawn for DNA for genetic testing, or Buccal Scrape for DNA: About 2 tablespoons of blood from adult participants, and about 2 teaspoons of blood form pediatric (child) participants will be drawn from a vein in your arm and will be studied in the laboratory. The blood sample may also be processed to create a cell line for a source of DNA for future genetic studies. These samples will be saved and placed in a secured facility at the UNC-CH School of Medicine, UNC Hospitals, or another site. All identifying information, including name and medical record number, will be removed from the samples. If a blood sample is unable to be collected, a buccal scrape for DNA will be done by twirling a small brush, inside of each cheek for about 30 seconds.
  2. Medical History Review: Medical history questions will be asked at the time of the visit. After the visit, a member of the research team will review the medical records and enter some of this information in our study database. We will review previous medical history records.

Targeted Enrollment

To be eligible to participate, you must:

  • Be an Adult or child who is suspected or known to have PCD, but without a defined genetic etiology (known cause).
  • Must have at least 2 clinical features (+/- lab) characteristic of PCD (signs that seem like PCD), including:
    • Neonatal (newborn) respiratory distress after term (or near-term) birth
    • and/or (situs inversus or heterotaxy)
    • and/or daily wet cough before 6 months of age
    • and/or middle ear disease
    • and/or chronic nasal congestion (long-term stuffy nose) 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 nL/min)
    • and/or defective ciliary ultrastructure

All races, genders and ethnicities will be included in this research study.

You are not eligible to participate if:

  • You have a known diagnosis of cystic fibrosis with classic clinical presentation and increased sweat chloride levels and/or two known disease-causing CFTR mutations, or documented primary or acquired immunodeficiency.
  • You have a known reason for bronchiectasis (and other clinical features), such as a1-antitrypsin deficiency (ZZ or ZS), inflammatory bowel disease or rheumatoid arthritis.
  • Anyone who is unwilling or unable to provide consent or to complete the testing required in this study.
  • 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
  • You should not be in this study if there is not chronic nasal/sinus and/or pulmonary disease.