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Genes Mutation Pentalogy of Cantrell

NCT00477932 · Status: WITHDRAWN · Type: OBSERVATIONAL

Last updated 2014-12-17

No results posted yet for this study

Summary

This study will collect blood, urine, and other tissue samples from 50 patients study-wide with Pentalogy of Cantrell and other inherited diseases that involve mutations in non-muscle genes. Mutations in non-muscle genes have been shown to result in human defects involving blood platelets, kidney, hearing and sight. The major objective of this protocol is to study a variety of blood, tissue and urine samples by looking at protein, DNA, and RNA in those collected samples.

Conditions

  • Pentalogy of Cantrell
  • Mutations in Non-muscle Genes

Sponsors & Collaborators

  • Emory University

    collaborator OTHER

  • University of Texas Southwestern Medical Center

    collaborator OTHER

  • University of California, San Francisco

    collaborator OTHER

  • Ben-Gurion University of the Negev

    collaborator OTHER

  • Brigham and Women's Hospital

    collaborator OTHER

  • Children's Hospital Medical Center, Cincinnati

    collaborator OTHER

  • Children's Hospital and Health System Foundation, Wisconsin

    collaborator OTHER

  • University of Puerto Rico

    collaborator OTHER

  • Children's Healthcare of Atlanta

    lead OTHER

Principal Investigators

  • Kirk Heiss, MD · Children's Healthcare of Atlanta

Eligibility

Min Age
2 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2006-03-31
Primary Completion
2012-01-31
Completion
2012-01-31

Countries

  • United States

Study Locations

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Entities

Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00477932 on ClinicalTrials.gov