L-arginine Concentrations and CPS Polymorphisms in VLBW Infants

Not Applicable

Completed

• Conditions: Infant, Very Low Birth Weight
• Interventions: Other: blood sample and buccal swab sample

• Registration Number: NCT00554866
• Lead Sponsor: Maastricht University Medical Center

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 Description

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.

Study Timeline

• Study Start: 2007-07
• Study First Submitted: 2007-11-06
• Study First Submitted QC: 2007-11-06
• Study First Posted: 2007-11-07
• Primary Completion: 2009-12
• Study Completion: 2014-12
• Status Verified: 2015-10
• Last Update Submitted: 2015-10-27
• Last Update Posted: 2015-10-28

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 477

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 blood sample (obtained between 6 and 12 hours after birth).
• Parents not able to give informed consent.

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
VLBW between 6 and12 hours after birth	blood sample and buccal swab sample	Blood sample and buccal swab sample. 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.

Primary Outcome Measures

Name	Time	Method
the association between the T1405N SNP in the CPS-1 gene and lower plasma L-arginine concentrations	2 years

Secondary Outcome Measures

Name	Time	Method
To determine whether the T1405N SNP in the CPS-1 gene is associated with a higher risk of NEC	4 years

Trial Locations

Locations (4)

Cattedra di Neonatologia-Università degli Studi di Milano; 🇮🇹 Milano, Italy

Maastricht University Hospital; 🇳🇱 Maastricht, Limburg, Netherlands

Complejo Universitario Hospitalario Insular-Materno Infantil; 🇪🇸 Las Palmas de Gran Canaria, Spain

Carlo Poma Hospital; 🇮🇹 Mantova, Italy