Clinical trial NCT00554866: L-arginine Concentrations and CPS Polymorphisms in VLBW Infants
Official title: Carbamoyl-phosphate Synthase Gene Polymorphisms Influencing Plasma L-arginine Concentrations in Preterm Infants
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Infant, Very Low Birth Weight
Lead sponsor: Maastricht University Medical Center
Sponsor class: OTHER
First posted: 2007-11-07
Enrollment: 477
Sex: ALL
Minimum age (years): 6
Maximum age (years): 12
Standard ages: CHILD
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP

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.

Eligibility criteria: 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.

Primary outcomes:
measure: the association between the T1405N SNP in the CPS-1 gene and lower plasma L-arginine concentrations
timeFrame: 2 years
Secondary outcomes:
measure: To determine whether the T1405N SNP in the CPS-1 gene is associated with a higher risk of NEC
timeFrame: 4 years
Other outcomes:
Locations:
city: Mantova
country: Italy
facility: Carlo Poma Hospital
city: Milano
country: Italy
facility: Cattedra di Neonatologia-Università degli Studi di Milano
city: Maastricht
country: Netherlands
facility: Maastricht University Hospital
state: Limburg
city: Las Palmas de Gran Canaria
country: Spain
facility: Complejo Universitario Hospitalario Insular-Materno Infantil
Study officials:
affiliation: Maastricht University Hospital
name: Eduardo Villamor, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References: