Clinical Trial: Genes Mutation Pentalogy of Cantrell

Study Status: Withdrawn
Recruit Status: Withdrawn
Study Type: Observational

Official Title: Human Disease With Mutation of Nonmuscle Myosin Heavy Chain Genes

Brief 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.

Detailed Summary:

Pentalogy of Cantrell is a very rare disorder in which patients have a combination of severe defects of the middle of the chest including the sternum (breastbone), diaphragm (muscle which separates the chest from the abdomen), heart, and abdominal wall. The defects can affect both males and females and is apparent at birth or shortly after.

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.

Enrollment in this study is entirely voluntary and the subject can elect to withdraw from the study at any time. Each subject will receive an oral and written explanation of this study and the purpose, procedures, and risks of this study in language that is comprehensible. The Investigator will be available to answer any questions the subject may have regarding the study. If the subject is a minor, the parent who signs the consent for the minor must be the legally recognized parent or guardian. Where deemed appropriate, the child will also be included in all discussions about the trial and a minor's assent will be obtained. The parent or guardian will sign on the designated line on the informed consent attesting to the fact that the child had given assent. If the minor child refuses to provide assent, then participation in the study will not occur. Informed consent will be obtained by the Investigator or designee, and a copy of the signed consent document will be given to the subject and placed in the subject's medical
Sponsor: Children's Healthcare of Atlanta

Current Primary Outcome: •Those patients who have Pentalogy of Cantrell (as defined under STUDY DESIGN) or other diseases that could involve mutation of any of the nonmuscle myosin genes that will be defined in future amendments [ Time Frame: Undetermined ]

Original Primary Outcome:

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Children's Healthcare of Atlanta

Dates:
Date Received: May 22, 2007
Date Started: March 2006
Date Completion:
Last Updated: December 16, 2014
Last Verified: December 2014