Ignite Creation Date:
2024-05-05 @ 5:30 PM
Last Modification Date:
2024-10-26 @ 9:33 AM
Study NCT ID:
NCT00477932
Status:
WITHDRAWN
Last Update Posted:
2014-12-17
First Post:
2007-05-22
Brief Title:
Genes Mutation Pentalogy of Cantrell
Sponsor:
Childrens Healthcare of Atlanta
Organization:
Childrens Healthcare of Atlanta
Study Overview
Official Title:
Human Disease With Mutation of Nonmuscle Myosin Heavy Chain Genes
Status:
WITHDRAWN
Status Verified Date:
2014-12
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Physicians chose to not follow through with the study
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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 Description:
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 minors 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 subjects medical record Subjects may withdraw permission of use of bloodtissueurine specimens at any time
Tissue andor blood andor urine samples from participating institutions that have identified cases of Pentalogy of Cantrell andor related syndromes will be collected These samples will be sent to the National Heart Lung and Blood Institute NHLBI for analysis and kept for a period of 5 years unless the subject withdraws permission during that period Standard methods will be used to collect the blood tissue andor urine samples For example blood samples will be obtained from routine blood drawing and tissue may be obtained from previously obtained tissue secondary to surgery
Samples that are sent to the NHLBI for analysis will have identifiers on them so if new information is discovered the research subject may be contacted All samples will be stored in a locked storage facility to maximize patient confidentiality
Anticipated Adverse Events are listed in the protocol and consent Unanticipated Adverse Events will be reported to the appropriate institutions All serious adverse events will be reported by the Investigator verbally and in writing to the Clinical Director and the NHLBI IRB within the time frame set by the protocol The nature of this study does not warrant a DSMB therefore the principal Investigator Dr Robert Adelstein will provide oversight of the safety and data analysis of the conduct of this study
The benefit of this study is discovery of the disease and the mutation that causes the disease therefore yielding generalizable knowledge regarding the disorder
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 minors 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 subjects medical record Subjects may withdraw permission of use of bloodtissueurine specimens at any time
Tissue andor blood andor urine samples from participating institutions that have identified cases of Pentalogy of Cantrell andor related syndromes will be collected These samples will be sent to the National Heart Lung and Blood Institute NHLBI for analysis and kept for a period of 5 years unless the subject withdraws permission during that period Standard methods will be used to collect the blood tissue andor urine samples For example blood samples will be obtained from routine blood drawing and tissue may be obtained from previously obtained tissue secondary to surgery
Samples that are sent to the NHLBI for analysis will have identifiers on them so if new information is discovered the research subject may be contacted All samples will be stored in a locked storage facility to maximize patient confidentiality
Anticipated Adverse Events are listed in the protocol and consent Unanticipated Adverse Events will be reported to the appropriate institutions All serious adverse events will be reported by the Investigator verbally and in writing to the Clinical Director and the NHLBI IRB within the time frame set by the protocol The nature of this study does not warrant a DSMB therefore the principal Investigator Dr Robert Adelstein will provide oversight of the safety and data analysis of the conduct of this study
The benefit of this study is discovery of the disease and the mutation that causes the disease therefore yielding generalizable knowledge regarding the disorder
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None