Clinical Trial: L-arginine Concentrations and CPS Polymorphisms in VLBW Infants

Study Status: Completed
Recruit Status: Completed
Study Type: Interventional

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

Brief Summary: 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.

Detailed 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 (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.
Sponsor: Maastricht University Medical Center

Current Primary Outcome: the association between the T1405N SNP in the CPS-1 gene and lower plasma L-arginine concentrations [ Time Frame: 2 years ]

Original Primary Outcome: Same as current

Current Secondary Outcome: To determine whether the T1405N SNP in the CPS-1 gene is associated with a higher risk of NEC [ Time Frame: 4 years ]

Original Secondary Outcome:

Information By: Maastricht University Medical Center

Dates:
Date Received: November 6, 2007
Date Started: July 2007
Date Completion:
Last Updated: October 27, 2015
Last Verified: October 2015