L-arginine Concentrations and CPS Polymorphisms in VLBW Infants - Full Text View

Purpose

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.

Condition	Intervention
Infant, Very Low Birth Weight	Other: blood sample and buccal swab sample


Study Type:	Interventional
Study Design:	Intervention Model: Single Group Assignment Masking: Open Label
Official Title:	Carbamoyl-phosphate Synthase Gene Polymorphisms Influencing Plasma L-arginine Concentrations in Preterm Infants

Resource links provided by NLM:

Genetics Home Reference related topics: carbamoyl phosphate synthetase I deficiency

MedlinePlus related topics: Genes and Gene Therapy

U.S. FDA Resources

Further study details as provided by Maastricht University Medical Center:

Primary Outcome Measures:

the association between the T1405N SNP in the CPS-1 gene and lower plasma L-arginine concentrations [ Time Frame: 2 years ] [ Designated as safety issue: No ]

Secondary Outcome Measures:

To determine whether the T1405N SNP in the CPS-1 gene is associated with a higher risk of NEC [ Time Frame: 4 years ] [ Designated as safety issue: No ]


Enrollment:	477
Study Start Date:	July 2007
Study Completion Date:	December 2014
Primary Completion Date:	December 2009 (Final data collection date for primary outcome measure)

Arms	Assigned Interventions
Experimental: VLBW between 6 and12 hours after birth 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.	Other: 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. Other Name: OmniSwab

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


Ages Eligible for Study:	up to 12 Hours (Child)
Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No

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.

Contacts and Locations

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Please refer to this study by its ClinicalTrials.gov identifier: NCT00554866

Locations


Italy
Carlo Poma Hospital
Mantova, Italy
Cattedra di Neonatologia-Università degli Studi di Milano
Milano, Italy
Netherlands
Maastricht University Hospital
Maastricht, Limburg, Netherlands, 6202 AZ
Spain
Complejo Universitario Hospitalario Insular-Materno Infantil
Las Palmas de Gran Canaria, Spain, 35016

Sponsors and Collaborators

Maastricht University Medical Center

Investigators


Principal Investigator:	Eduardo Villamor, MD, PhD	Maastricht University Hospital

More Information


Responsible Party:	Maastricht University Medical Center
ClinicalTrials.gov Identifier:	NCT00554866 History of Changes
Other Study ID Numbers:	07-2-018
Study First Received:	November 6, 2007
Last Updated:	October 27, 2015
Health Authority:	Netherlands: The Central Committee on Research Involving Human Subjects (CCMO)

Additional relevant MeSH terms:


Birth Weight Body Weight Signs and Symptoms

ClinicalTrials.gov processed this record on September 29, 2016