Demographic, Metabolic, and Genomic Description of Neonates With Severe Hyperbilirubinemia - Full Text View

Sponsor:	Pediatrix Medical Group
Information provided by:	Pediatrix Medical Group
ClinicalTrials.gov Identifier:	NCT00383318

Purpose

The purpose of this study is to compare the demographic, metabolic, and genomic characteristics of patients who develop severe hyperbilirubinemia to patients who never developed a significant bilirubin level.

Condition	Intervention
Hyperbilirubinemia Jaundice	Procedure: Gene mutation sample

Study Type:	Observational
Study Design:	Time Perspective: Prospective
Official Title:	Demographic, Metabolic, and Genomic Description of Neonates With Severe Hyperbilirubinemia

Resource links provided by NLM:

Genetics Home Reference related topics: Gilbert syndrome Help Me Understand Genetics

MedlinePlus related topics: Jaundice

U.S. FDA Resources

Further study details as provided by Pediatrix Medical Group:

Estimated Enrollment:	450
Study Start Date:	September 2006
Study Completion Date:	December 2007
Primary Completion Date:	December 2007 (Final data collection date for primary outcome measure)

Detailed Description:

The purpose of this study is to compare the demographic, metabolic, and genomic characteristics of patients who develop severe hyperbilirubinemia (serum bilirubin level in the "high risk zone of greater than the 95th percentile based on the Bhutani nomogram) to patients who never developed significant hyperbilirubinemia (bilirubin level in "low risk zone of less than the 40th percentile" on Bhutani nomogram and who did not require any treatment for hyperbilirubinemia). Our primary goal is to determine if common gene mutations occur at a greater frequency in patients with severe hyperbilirubinemia than in neonates without significant hyperbilirubinemia.

The gene mutations we will test for are:

Glucose-6-phosphate Dehydrogenase Deficiency [G6PD] gene mutations
African A- mutation (G202A;A376G)
The common Mediterranean mutation (C563T)
Two common Chinese mutations (G1376T and G1388A)
UGT1A1 polymorphism. The UGT1A1 gene polymorphisms refer to those genetic defects found to be associated with Gilbert's Syndrome, including a promoter defect (T-3263G) that disrupts a transcription regulatory site, the TA repeats promoter polymorphism, and four mutations within the coding region (G211A, C686A, C1091T, and T1456G).
Gene polymorphism for the organic anion transporting protein (OATP-2)

Eligibility

Ages Eligible for Study:	up to 6 Days
Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	Yes

Criteria

Inclusion Criteria:

Case

Documentation of informed consent.
Gestational age greater than or equal to 37 weeks.
Birth weight greater than or equal to 2000 grams.
At least one serum bilirubin level that is greater than the 95th percentile ("high risk zone") based on the Bhutani nomogram(1), for the case population.
Age at enrollment less than 7 days or less than or equal to 168 hours.
No major anomalies (chromosomal abnormalities, cyanotic congenital heart disease, gastroschisis, omphalocele, diaphragmatic hernia, or other major gastrointestinal anomalies, major neurological injury or anomaly, and multiple congenital anomalies).
Ability to follow subjects transferred to another facility for outcome data.

Control

Documentation of informed consent.
Gestational age greater than or equal to 37 weeks.
Birth weight greater than or equal to 2000 grams.
At least one estimate of serum bilirubin. Bilirubin level estimated to be less than the 40th percentile ("low risk zone") based on the Bhutani nomogram. While a serum bilirubin in the low risk zone is the preferred method for assessing the bilirubin level, many pediatricians use transcutaneous measure of bilirubin as a screening tool for identifying "low risk" patients. For this reason, we will allow controls to be identified using transcutaneous measurements and collect serum bilirubin levels only as clinically indicated.
Age at enrollment less than 7 days or less than or equal to 168 hours.
No major anomalies (chromosomal abnormalities, cyanotic congenital heart disease, gastroschisis, omphalocele, diaphragmatic hernia or other major gastrointestinal anomalies, major neurological injury or anomaly, and multiple congenital anomalies).
Ability to follow subjects transferred to another facility for outcome data.

Exclusion Criteria:

Case and Control

Gestational age less than 37 weeks.
Birth weight less than 2000 grams.
Older than 7 days of age or 168 hours.
Any major congenital anomalies.

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00383318

Locations

United States, South Carolina
Greenville Medical Center
Greenville, South Carolina, United States, 29605

Sponsors and Collaborators

Pediatrix Medical Group

Investigators

Principal Investigator:	Reese H Clark, MD	Pediatrix Medical Group
Principal Investigator:	Zhili Lin, PhD, MD	Pediatrix Screening
Principal Investigator:	Jon Watchko, MD	University of Pittsburgh

More Information

Publications:

Watchko JF. Vigintiphobia revisited. Pediatrics. 2005 Jun;115(6):1747-53. Review.

Bhutani VK, Johnson LH, Jeffrey Maisels M, Newman TB, Phibbs C, Stark AR, Yeargin-Allsopp M. Kernicterus: epidemiological strategies for its prevention through systems-based approaches. J Perinatol. 2004 Oct;24(10):650-62. Review.

Johnson LH, Bhutani VK, Brown AK. System-based approach to management of neonatal jaundice and prevention of kernicterus. J Pediatr. 2002 Apr;140(4):396-403. No abstract available.

Ip S, Chung M, Kulig J, O'Brien R, Sege R, Glicken S, Maisels MJ, Lau J; American Academy of Pediatrics Subcommittee on Hyperbilirubinemia. An evidence-based review of important issues concerning neonatal hyperbilirubinemia. Pediatrics. 2004 Jul;114(1):e130-53. Review.

Additional publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):

Watchko JF, Lin Z, Clark RH, Kelleher AS, Walker MW, Spitzer AR; Pediatrix Hyperbilirubinemia Study Group. Complex multifactorial nature of significant hyperbilirubinemia in neonates. Pediatrics. 2009 Nov;124(5):e868-77. Epub 2009 Oct 26.

ClinicalTrials.gov Identifier:	NCT00383318 History of Changes
Other Study ID Numbers:	PDX 06-001
Study First Received:	October 2, 2006
Last Updated:	January 24, 2008
Health Authority:	United States: Institutional Review Board

Keywords provided by Pediatrix Medical Group:

Neonate
Hyperbilirubinemia
Jaundice
G6PD Deficiency
Gilbert's Syndrome

Additional relevant MeSH terms:

Hyperbilirubinemia
Jaundice
Pathologic Processes
Skin Manifestations
Signs and Symptoms

ClinicalTrials.gov processed this record on May 22, 2012