Genetic sequencing study in Primary Ciliary Dyskinesia.

Completed

• Conditions: 10024970; immotile cilia syndrome; Primary Cliliary Dyskinesia; 10038686

• Registration Number: NL-OMON37743
• Lead Sponsor: Vrije Universiteit Medisch Centrum

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 29 April 2024

Recruitment & Eligibility

• Status: Completed
• Sex: Not specified
• Target Recruitment: 83

Inclusion Criteria

Primary Ciliary Dyskinesia

Exclusion Criteria

Other recessive hereditary diseases, known Volendam PCD mutation

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Main study endpoints:<br /><br>I Pathogenic mutations found in novel genes: gene, type, number<br /><br>II Pathogenic mutations found in selected known genes: gene, type, number.<br /><br>III Diagnostic test, based on a set of PCD genes<br /><br>IV Accuracy of the MPS technique after validation. Sensitivity and specificity<br /><br>for identifying<br /><br>known mutations.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>None</p><br>