L-arginine Concentrations and CPS Polymorphisms in VLBW Infants

Sponsor

Maastricht University Medical Center (Other)

Overall Status

Completed

CT.gov ID

NCT00554866

Collaborator

(none)

477

Enrollment

Locations

Arm

Duration (Months)

119.3

Patients Per Site

1.3

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Infant, Very Low Birth Weight	Other: blood sample and buccal swab sample	N/A

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 Design

Study Type:

Interventional

Actual Enrollment :

477 participants

Allocation:

N/A

Intervention Model:

Single Group Assignment

Masking:

None (Open Label)

Official Title:

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

Study Start Date :

Jul 1, 2007

Actual Primary Completion Date :

Dec 1, 2009

Actual Study Completion Date :

Dec 1, 2014

Arms and Interventions

Arm	Intervention/Treatment
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 Names: OmniSwab

Arm

Intervention/Treatment

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 Names:

OmniSwab

Outcome Measures

Primary Outcome Measures

the association between the T1405N SNP in the CPS-1 gene and lower plasma L-arginine concentrations [2 years]

Secondary Outcome Measures

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

Eligibility Criteria

Criteria

Ages Eligible for Study:

6 Hours to 12 Hours

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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

Locations

	Site	City	State	Country	Postal Code
1	Carlo Poma Hospital	Mantova		Italy
2	Cattedra di Neonatologia-Università degli Studi di Milano	Milano		Italy
3	Maastricht University Hospital	Maastricht	Limburg	Netherlands	6202 AZ
4	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

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

Responsible Party:

Maastricht University Medical Center

ClinicalTrials.gov Identifier:

NCT00554866

Other Study ID Numbers:

07-2-018

First Posted:

Nov 7, 2007

Last Update Posted:

Oct 28, 2015

Last Verified:

Oct 1, 2015

Additional relevant MeSH terms:

Birth Weight

Study Results

No Results Posted as of Oct 28, 2015