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Report for Clinical Trial NCT00554866

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Carbamoyl-phosphate Synthase Gene Polymorphisms Influencing Plasma L-arginine Concentrations in Preterm Infants

Plasma L-arginine concentrations are decreased in premature infants with necrotizing enterocolitis (NEC). A carbamoyl-phosphate synthetase 1 (CPS1) polymorphism has been correlated with low plasma concentrations of L-arginine in neonates (> 35 weeks of gestation). Recently Moonen et al (Pediatr Res 2007; 62(2):188-90) 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.

NCT00554866 Infant, Very Low Birth Weight
MeSH:Birth Weight

1 Interventions

Name: blood sample and buccal swab sample

Description: one blood sample (500 mL) will be obtained from each VLBW infant between 6 and12 hours after birth from an umbilical-artery or peripheral artery catheter. Additional DNA collection buccal cell samples were obtained with a sterile OmniSwab.
Type: Other
Group Labels: 1

VLBW between 6 and12 hours after birth


Primary Outcomes

Measure: the association between the T1405N SNP in the CPS-1 gene and lower plasma L-arginine concentrations

Time: 2 years

Secondary Outcomes

Measure: To determine whether the T1405N SNP in the CPS-1 gene is associated with a higher risk of NEC

Time: 4 years

Allocation: N/A

Single Group Assignment


There is one SNP

SNPs


1 T1405N

Recently Moonen et al (Pediatr Res 2007; 62(2):188-90) described a correlation between this CPS1 T1405N single nucleotide polymorphism (SNP) and the presence of NEC in VLBW infants. --- T1405N ---

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. --- T1405N ---

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. the association between the T1405N SNP in the CPS-1 gene and lower plasma L-arginine concentrations. --- T1405N ---

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. the association between the T1405N SNP in the CPS-1 gene and lower plasma L-arginine concentrations. --- T1405N --- --- T1405N ---

To determine whether the T1405N SNP in the CPS-1 gene is associated with a higher risk of NEC. --- T1405N ---

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). --- T1405N ---

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. --- T1405N ---



HPO Nodes