To determine whether the T1405N SNP in the CPS-1 gene is associated with lower plasma L-arginine concentrations in preterm infants and to determine whether the T1405N SNP in the CPS-1 gene is associated with a higher risk of NEC.
ID
Source
Brief title
Condition
- Gastrointestinal inflammatory conditions
- Protein and amino acid metabolism disorders NEC
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
The association between the T1405N SNP in the CPS-1 gene and lower plasma
L-arginine concentrations
Secondary outcome
The difference in genotype distribution of this polymorphism between VLBW
infants developing necrotizing enterocolitis and those who do not.
Background summary
Plasma L-arginine concentrations are decreased in premature infants with
necrotizing enterocolitis (NEC). A C-to-A nucleotide transversion (T1405N) in
the gene that encodes carbamoyl-phosphate synthetase 1 (CPS1), the
rate-limiting enzyme in the urea cycle, has been correlated with low plasma
concentrations of L-arginine in neonates (> 35 weeks of gestation). Recently
Moonen et al (submitted to Pediatric Research) described a correlation between
this CPS1 T1405N single nucleotide polymorphism (SNP) and the presence of NEC
in VLBW infants. However there is no data about the correlation between the
plasma arginine concentrations and the T1405N SNP in the CPS-1 gene in VLBW
infants. In the present project we postulate that T1405N SNP in the CPS-1 gene
is associated with lower plasma arginine concentrations and is also a risk
factor for the development of NEC.
Study objective
To determine whether the T1405N SNP in the CPS-1 gene is associated with lower
plasma L-arginine concentrations in preterm infants and to determine whether
the T1405N SNP in the CPS-1 gene is associated with a higher risk of NEC.
Study design
Prospective, multicenter cohort study.
Study burden and risks
one blood sample (500 microliter) will be obtained from each VLBW infant
between 6 and12 hours after birth from an umbilical-artery or peripheral artery
catheter. When not available, blood samples will be obtained from venous
puncture. The blood sample will be taken at the same time as the regular
bloodsamples.
The risks are those of venous puncture or taken blood from a catheter and are
minimal and the burden is negligible.
An additionale buccal swab will be obtained. The risks and burden of a buccal
swab are negligible.
This study can only be done using this patient group because necrotizing
enterocolitis primarily afflicts premature infants born weighing less than 1500
g. There is a group relatedness.
Postbus 5800
6202 AZ Maastricht
Nederland
Postbus 5800
6202 AZ Maastricht
Nederland
Listed location countries
Age
Inclusion criteria
VLBW infants (<30 weeks and < 1500 gram birth weight)
Exclusion criteria
Blood transfusion, enteral or parenteral protein intake, or inhaled nitric oxide administration before time of the bloodsample (obtained between 6 and12 hours after birth). Parents not able to give informed consent.
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 |
|---|---|
| ClinicalTrials.gov | NCT00554866 |
| CCMO | NL17091.068.07 |