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Arginine and CPS Polymorphisms

This study is currently recruiting participants.
Verified July 2011 by Maastricht University Medical Center
Sponsor:
Information provided by:
Maastricht University Medical Center
ClinicalTrials.gov Identifier:
NCT00554866
First received: November 6, 2007
Last updated: July 19, 2011
Last verified: July 2011
History of Changes
  Purpose

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.


Condition Intervention
Preterm Infants
 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:

MedlinePlus related topics: Premature Babies
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 ]

Estimated Enrollment: 350
Study Start Date: July 2007
Estimated Study Completion Date: December 2011
Primary Completion Date: December 2009 (Final data collection date for primary outcome measure)
Intervention Details:
    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
  Eligibility

Ages Eligible for Study:   up to 12 Hours
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
Please refer to this study by its ClinicalTrials.gov identifier: NCT00554866

Contacts
Contact: Eduardo Villamor, MD, PhD +3143877246 e.villamor@mumc.nl
Contact: Rob M Moonen, MD +3143877246 rmn03@atriummc.nl

Locations
Italy
Carlo Poma Hospital Recruiting
Mantova, Italy
Contact: Giacomo Cavallaro, MD            
Cattedra di Neonatologia-Università degli Studi di Milano Recruiting
Milano, Italy
Contact: Fabio Mosca, Prof.            
Netherlands
Maastricht University Hospital Recruiting
Maastricht, Limburg, Netherlands, 6202 AZ
Contact: Eduardo Villamor, MD, PhD     +3143877246     e.villamor@mumc.nl    
Spain
Complejo Universitario Hospitalario Insular-Materno Infantil Recruiting
Las Palmas de Gran Canaria, Spain, 35016
Contact: Gema E González Luis, MD            
Sponsors and Collaborators
Maastricht University Medical Center
Investigators
Principal Investigator: Eduardo Villamor, MD, PhD Maastricht University Hospital
  More Information

No publications provided

Responsible Party: Eduardo Villamor, MD, PhD, University Hospital Maastricht
ClinicalTrials.gov Identifier: NCT00554866     History of Changes
Other Study ID Numbers: 07-2-018
Study First Received: November 6, 2007
Last Updated: July 19, 2011
Health Authority: Netherlands: The Central Committee on Research Involving Human Subjects (CCMO)

Additional relevant MeSH terms:
Carbamoyl-Phosphate Synthase I Deficiency Disease
Urea Cycle Disorders, Inborn
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
 Nervous System Diseases
Amino Acid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases
Mitochondrial Diseases

ClinicalTrials.gov processed this record on June 13, 2013