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Diagnosis of Primary Ciliary Dyskinesia

NCT00783887 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 125

Last updated 2013-08-07

No results posted yet for this study

Summary

Primary ciliary dyskinesia is an inherited respiratory disease caused by various functional and ultrastructural abnormalities of respiratory cilia. The genetic heterogeneity underlying PCD is extremely important and only few genes are clearly implicated in PCD. Their mutations account for about 20% of patients. For all the other PCD patients, the genes responsible for their ciliary defect remain to be identify.

Conditions

  • Primary Ciliary Dyskinesia
  • Kartagener Syndrome

Interventions

OTHER

Blood sample

Blood sample of 5 ml

Sponsors & Collaborators

  • Assistance Publique - Hôpitaux de Paris

    lead OTHER

Principal Investigators

  • Serge AMSELEM, MD PhD · Assistance Publique - Hôpitaux de Paris

Eligibility

Min Age
1 Month
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2010-01-31
Primary Completion
2012-12-31
Completion
2012-12-31

Countries

  • France

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 NCT00783887 on ClinicalTrials.gov