|- candidate number||10520|
|- NTR Number||NTR3138|
|- ISRCTN||ISRCTN wordt niet meer aangevraagd.|
|- Date ISRCTN created|
|- date ISRCTN requested|
|- Date Registered NTR||11-nov-2011|
|- Secondary IDs||pro 11/68 CWO VUmc|
|- Public Title||Genetic characteristics of Primary Ciliary Dyskinesia.|
|- Scientific Title||Sequencing study in Primary Ciliary Dyskinesia.|
|- hypothesis||We 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) studied||Primary ciliary dyskinesia|
|- Inclusion criteria||Primary Ciliary Dyskinesia.|
|- Exclusion criteria||Other recessive hereditary disorders.|
|- mec approval received||no|
|- multicenter trial||no|
|- Type||Single arm|
|- planned startdate ||1-jan-2012|
|- planned closingdate||1-jan-2015|
|- Target number of participants||83|
|- Primary outcome||1. Accuracy of MPS in detecting PCD mutation (validation);|
2. Possible pathogenic mutations causing PCD.
|- Secondary outcome||N/A|
|- Trial web site||N/A|
|- CONTACT FOR PUBLIC QUERIES||MD. T. Paff|
|- CONTACT for SCIENTIFIC QUERIES||MD. T. Paff|
|- Sponsor/Initiator ||VU University Medical Center|
(Source(s) of Monetary or Material Support)
|VU University Medical Center, Fonds Nuts-Ohra|
|- Brief summary||Primary 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)|
|- RECORD||11-nov-2011 - 21-nov-2011|