Objectives: The aim of this study is to:I Identify pathogenic mutations in novel genes, causing PCDII Develop a diagnostic PCD test, based on MPSIII Validate MPS technique for PCD.
ID
Source
Brief title
Condition
- Respiratory disorders congenital
- Respiratory tract infections
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Main study endpoints:
I Pathogenic mutations found in novel genes: gene, type, number
II Pathogenic mutations found in selected known genes: gene, type, number.
III Diagnostic test, based on a set of PCD genes
IV Accuracy of the MPS technique after validation. Sensitivity and specificity
for identifying
known mutations.
Secondary outcome
None
Background summary
Rationale:
Early diagnosis of Primary Ciliary Dyskinesia (PCD) is important for the
preservation of lung function and quality of life. The diagnosis of PCD is
difficult, as a single gold standard is lacking. At present there is no genetic
test available for PCD due to the many genes that are involved, of which 60-70%
are still unknown. Recent advances in genetic sequencing technologies enable
DNA sequencing for many patients and hundreds of genes simultaneously. Massive
Parallel Sequencing (MPS) is a fast and reliable technique to find mutations in
DNA. This offers the possibility to develop a diagnostic test for PCD and find
mutations in novel genes associated with the disease.
Study objective
Objectives:
The aim of this study is to:
I Identify pathogenic mutations in novel genes, causing PCD
II Develop a diagnostic PCD test, based on MPS
III Validate MPS technique for PCD.
Study design
This is an observational study, performed by the department of clinical
genetics in collaboration with the department of pediatric pulmonology and
pulmonary diseases of the VU University Medical Center, Amsterdam, the
Netherlands. This study is intended to run from February 2012 till February
2015.
Study burden and risks
Children are important to include in this study because it is likely that every
family has its own unique mutation(s). To design a proper diagnostic test for
PCD, as many as possible associated mutations should be included. Due to the
recessive heredity of the disease we would not be able to find most mutations
that cause PCD in the Netherlands if only adult patients would be included in
this study. Participation of patients requires a DNA sample which will be
obtained from saliva. By using this non-invasive procedure to obtain DNA we
ensure that there are no risks and the burden for children and adults is
minimized.
Van Boechorstraat 7
Amsterdam 1081 BT
NL
Van Boechorstraat 7
Amsterdam 1081 BT
NL
Listed location countries
Age
Inclusion criteria
Primary Ciliary Dyskinesia
Exclusion criteria
Other recessive hereditary diseases, known Volendam PCD mutation
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL38804.029.12 |