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Demographic, Metabolic, and Genomic Description of Neonates With Severe Hyperbilirubinemia

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ClinicalTrials.gov Identifier: NCT00383318
Recruitment Status : Completed
First Posted : October 3, 2006
Last Update Posted : January 28, 2008
Sponsor:
Information provided by:

Study Description
Brief Summary:
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 or disease Intervention/treatment
Hyperbilirubinemia Jaundice Procedure: Gene mutation sample

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)

Study Design

Study Type : Observational
Estimated Enrollment : 450 participants
Time Perspective: Prospective
Official Title: Demographic, Metabolic, and Genomic Description of Neonates With Severe Hyperbilirubinemia
Study Start Date : September 2006
Primary Completion Date : December 2007
Study Completion Date : December 2007

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Jaundice
U.S. FDA Resources

Groups and Cohorts


Outcome Measures

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 6 Days   (Child)
Sexes Eligible for Study:   All
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00383318


Locations
United States, South Carolina
Greenville Medical Center
Greenville, South Carolina, United States, 29605
Sponsors and Collaborators
Mednax Center for Research, Education, Quality and Safety
Investigators
Principal Investigator: Reese H Clark, MD Mednax Center for Research, Education, Quality and Safety
Principal Investigator: Zhili Lin, PhD, MD Pediatrix Screening
Principal Investigator: Jon Watchko, MD University of Pittsburgh
More Information

Publications:
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
ClinicalTrials.gov Identifier: NCT00383318     History of Changes
Other Study ID Numbers: PDX 06-001
First Posted: October 3, 2006    Key Record Dates
Last Update Posted: January 28, 2008
Last Verified: January 2008

Keywords provided by Mednax Center for Research, Education, Quality and Safety:
Neonate
Hyperbilirubinemia
Jaundice
G6PD Deficiency
Gilbert's Syndrome

Additional relevant MeSH terms:
Jaundice
Hyperbilirubinemia
Pathologic Processes
Skin Manifestations
Signs and Symptoms