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Genetics of Primary Ciliary Dyskinesia

NCT02389049 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 320

Last updated 2022-08-10

No results posted yet for this study

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.

Conditions

  • Primary Ciliary Dyskinesia
  • Kartagener Syndrome

Sponsors & Collaborators

  • Rare Diseases Clinical Research Network

    collaborator NETWORK

  • National Institutes of Health (NIH)

    collaborator NIH

  • National Heart, Lung, and Blood Institute (NHLBI)

    collaborator NIH

  • University of North Carolina, Chapel Hill

    lead OTHER

Principal Investigators

  • Michael Knowles, MD · University of North Carolina, Chapel Hill

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2015-02-28
Primary Completion
2018-07-31
Completion
2018-07-31

Countries

  • United States
  • Canada

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02389049 on ClinicalTrials.gov