To investigate the relation between a known genetic variation in a set of selected genes involved in the recognition of microorganisms and inflammation and the frequency of respiratory tract infections in a group of children with DS.
ID
Source
Brief title
Condition
- Chromosomal abnormalities, gene alterations and gene variants
- Immune disorders NEC
- Hepatobiliary neoplasms malignant and unspecified
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
To investigate the genetic variation in TLRs and related genes in children with
DS compared to a cohort of healthy controls.
Secondary outcome
To investigate if a relationship exists between certain genetic polymorphisms
in TLR genes and an increased susceptibility to respiratory tract infections
within the group children with DS.
Background summary
Children with Down syndrome ( DS) are more prone to respiratory tract
infections than healthy children: both the severeness and frequency of
respiratory tract infections are increased in children with DS.
This results in an increased frequency of hospitalizations. One of the causes
of this increased frequency of respiratory tract infections in DS is an altered
immune response : former investigations revealed a diminished cellular and
humoral immune response. "Toll-like" receptors play a prominent role in
initiating the cellular immune response.
Our hypothesis is that polymorphisms in the TLR genes in children with DS
contribute to the higher frequency of respiratory tract infections in this
group.
Study objective
To investigate the relation between a known genetic variation in a set of
selected genes involved in the recognition of microorganisms and inflammation
and the frequency of respiratory tract infections in a group of children with
DS.
Study design
Study type: observational.
Duration of the study: one year
Location: Outpatient clinic of pediatric VU University Medical Center and
Laboratory of Immunogenetics VU University Medical Center
A. Patient-related part: questionnaire for the parents of participating
children with DS, concerning the frequency of infections in their children.
Obtaining DNA of the child with DS by means of a buccal swab, which can be
performed by the parents at home, by means of a small brush.
B.Laboratory-related part: analysis of Single Nucleotide Polymorphisms (SNPs)
in TLR- and NOD genes by TaqMan analyses, PCR based RFLPs and VNTR analyses.
Study burden and risks
The burden and risks for the patient are minimal: the parents can obtain a
buccal swab from their child ,at home, which is a very simple and painless
procedure. The parents are asked to fill in a questionnaire concerning the
frequency of infections their child has had. Participants will not have a
direct benefit from this study. We consider however that the knowledge that we
can obtain with this study can be helpful to develop future treatments for this
group of patients.
Postbus 7057
1007 MB Amsterdam
Nederland
Postbus 7057
1007 MB Amsterdam
Nederland
Listed location countries
Age
Inclusion criteria
1.written informed consent from both parents or legal guardian(s)
2. age 0 until 18 years
3. sex: male and female
4. Down syndrome: trisomy 21
Exclusion criteria
1. not meeting inclusion criteria
2. Down syndrome: translocation or mozaicism
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 | NL24208.029.08 |