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

January 24, 2008 updated by: Pediatrix
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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

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 Type

Observational

Enrollment (Anticipated)

450

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

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

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

No older than 6 days (Child)

Accepts Healthy Volunteers

Yes

Genders Eligible for Study

All

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Pediatrix

Investigators

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

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

September 1, 2006

Primary Completion (Actual)

December 1, 2007

Study Completion (Actual)

December 1, 2007

Study Registration Dates

First Submitted

October 2, 2006

First Submitted That Met QC Criteria

October 2, 2006

First Posted (Estimate)

October 3, 2006

Study Record Updates

Last Update Posted (Estimate)

January 28, 2008

Last Update Submitted That Met QC Criteria

January 24, 2008

Last Verified

January 1, 2008

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • PDX 06-001

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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