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Genetic characteristics of Primary Ciliary Dyskinesia.


- candidate number10520
- NTR NumberNTR3138
- ISRCTNISRCTN wordt niet meer aangevraagd.
- Date ISRCTN created
- date ISRCTN requested
- Date Registered NTR11-nov-2011
- Secondary IDspro 11/68 CWO VUmc
- Public TitleGenetic characteristics of Primary Ciliary Dyskinesia.
- Scientific TitleSequencing study in Primary Ciliary Dyskinesia.
- ACRONYM
- hypothesisWe aim to validate Massive Parallel Sequencing in Primary Ciliary Dyskinesia (PCD) and identify novel disease causing mutations in the Dutch PCD population.
- Healt Condition(s) or Problem(s) studiedPrimary ciliary dyskinesia
- Inclusion criteriaPrimary Ciliary Dyskinesia.
- Exclusion criteriaOther recessive hereditary disorders.
- mec approval receivedno
- multicenter trialno
- randomisedno
- groupParallel
- TypeSingle arm
- Studytypeobservational
- planned startdate 1-jan-2012
- planned closingdate1-jan-2015
- Target number of participants83
- InterventionsN/A
- Primary outcome1. Accuracy of MPS in detecting PCD mutation (validation);
2. Possible pathogenic mutations causing PCD.
- Secondary outcomeN/A
- TimepointsN/A
- Trial web siteN/A
- statusplanned
- CONTACT FOR PUBLIC QUERIESMD. T. Paff
- CONTACT for SCIENTIFIC QUERIESMD. T. Paff
- Sponsor/Initiator VU University Medical Center
- Funding
(Source(s) of Monetary or Material Support)
VU University Medical Center, Fonds Nuts-Ohra
- PublicationsN/A
- Brief summaryPrimary Ciliary Dyskinesia (PCD) is an autosomal recessive hereditary disorder that causes dysfunction of cilia. Patients suffer from frequent respiratory infections and often develop bronchiectasis. Diagnosing PCD is difficult as a single gold standard is lacking. The diagnosis is usually based on a combination of clinical symptoms, abnormal movement of cilia on microscopic evaluation of respiratory epithelial biopsies and epithelial cell cultures, and/or identification of an ultra structural defect in the cilia by electron microscopy. Genetic testing is time consuming and very costly as there are many large genes involved. However, recent developments enable rapid DNA sequencing of many fragments in parallel.

We aim to validate Massive Parallel Sequencing (MPS) in Primary Ciliary Dyskinesia and identify novel disease causing mutations in our Dutch PCD population.

We aim to include all children and adults with PCD visiting the VU University Medical Center, Amsterdam.
- Main changes (audit trail)
- RECORD11-nov-2011 - 21-nov-2011


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