search  
 


Home

Who are we?

Why
register?


Signup for
registration


Online registration

Log in to register
your trial


Search a trial

NRT en CCMO

Contact

NEDERLANDS





MetaRegister
van CCT (UK)


ISRCTN-Register
van CCT (UK)


Gene expression during ciliagenesis: Towards a novel candidate gene list for Primary Ciliary Dyskinesia.


- candidate number14462
- NTR NumberNTR3880
- ISRCTNISRCTN wordt niet meer aangevraagd.
- Date ISRCTN created
- date ISRCTN requested
- Date Registered NTR4-mrt-2013
- Secondary IDsPro 12/99 CMO VUmc
- Public TitleGene expression during ciliagenesis: Towards a novel candidate gene list for Primary Ciliary Dyskinesia.
- Scientific TitleGene expression during ciliagenesis: Towards a novel candidate gene list for Primary Ciliary Dyskinesia.
- ACRONYM
- hypothesisWe aim to assess gene expression patterns in cilia-producing cells from healthy controls to develop a candidate gene list for PCD. We hypothesise that:
1. Known PCD genes show similar gene expression patterns during ciliagenesis;
2. Novel candidate genes can be identified by clustering genes with similar expression patterns.
- Healt Condition(s) or Problem(s) studiedPrimary ciliary dyskinesia
- Inclusion criteria≥ 18 years of age.
- Exclusion criteria1. Any signs of upper or lower airway infection;
2. Coagulation disorders (or any symptoms of easy bruising, heavy bleedings);
3. Use of anti-coagulants.
- mec approval receivedno
- multicenter trialno
- randomisedno
- groupParallel
- TypeSingle arm
- Studytypeobservational
- planned startdate 1-mei-2013
- planned closingdate1-mei-2014
- Target number of participants6
- InterventionsNasal curette and brush biopsies will be performed on healthy volunteers to obtain respiratory epithelial cells. Cells will be cultured and RNA will be isolated at three different time points during cilia genesis. Subsequently, Affymetrix gene expression arrays will be performed on cDNA and analyzed by cluster analysis.
- Primary outcomeGene expression levels and pattern.
- Secondary outcomeCell culture success rate with brush biopsies.
- TimepointsRNA will be isolated at three different time points during ciliagenesis (before, during and after the growth of cilia).
- 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, Nuts/Ohra
- PublicationsN/A
- Brief summaryPrimary Ciliary Dyskinesia (PCD) is a hereditary disorder occurring in 1:15.000-30.000 live births, with increased frequency in genetically isolated populations. PCD is characterised by dyskinesia of epithelial cilia causing chronic respiratory disease. Diagnosing patients can be challenging, as there is no gold standard test. Due to the many unknown disease causing gene defects, genetic testing is still not possible in most cases. To this date, our understanding of the molecular composition of cilia is far from complete. Investigating which genes are important in cilia genesis will contribute to a more complete candidate gene list and development of a diagnostic test for Primary Ciliary Dyskinesia.

Objective of the study:
We aim to assess gene expression patterns in cilia-producing cells from healthy controls to develop a candidate gene list for PCD.

Study design:
This observational study will be conducted at the VU University Medical Center. Nasal curette and brush biopsies will be performed on healthy volunteers to obtain respiratory epithelial cells. Cells will be cultured and RNA will be isolated at three different time points during cilia genesis. Subsequently, Affymetrix gene expression arrays will be performed on cDNA and analyzed by cluster analysis.

Study population:
Six healthy volunteers (employees from the Dept. of Pulmonary Medicine/Pediatrics/Clinical Genetics) will be recruited to participate in this study.

Primary study parameters/outcome of the study:
Gene expression levels and pattern.

Secundary study parameters/outcome of the study:
Cell culture success rate with brush biopsies.
- Main changes (audit trail)
- RECORD4-mrt-2013 - 17-mrt-2013


  • Indien u gegevens wilt toevoegen of veranderen, kunt u een mail sturen naar nederlands@trialregister.nl