We updated the design of this site on December 18, 2017. Learn more.
ClinicalTrials.gov
ClinicalTrials.gov Menu

Genes Mutation Pentalogy of Cantrell

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT00477932
Recruitment Status : Withdrawn (Physician's chose to not follow through with the study.)
First Posted : May 24, 2007
Last Update Posted : December 17, 2014
Sponsor:
Collaborators:
Information provided by (Responsible Party):

Study Description
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.

Condition or disease
Pentalogy of Cantrell Mutations in Non-muscle Genes

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 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 record. Subjects may withdraw permission of use of blood/tissue/urine specimens at any time.

Tissue and/or blood and/or urine samples from participating institutions that have identified cases of Pentalogy of Cantrell and/or 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, and/or 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 Design

Study Type : Observational
Actual Enrollment : 0 participants
Time Perspective: Prospective
Official Title: Human Disease With Mutation of Nonmuscle Myosin Heavy Chain Genes
Study Start Date : March 2006
Primary Completion Date : January 2012
Study Completion Date : January 2012

Resource links provided by the National Library of Medicine

U.S. FDA Resources

Groups and Cohorts


Outcome Measures

Primary Outcome Measures :
  1. •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 ]

Eligibility Criteria

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Ages Eligible for Study:   2 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
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
Criteria

Inclusion Criteria:

  • 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
  • Outside Institutions- All ages will be included
  • At the Clinical Center-Those subjects that are > 2 years of age and older

Exclusion Criteria:

  • screening for subjects who may be asymptomatic, but who could be carrying the gene
  • we will exclude all children under the age of 2
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): NCT00477932


Locations
United States, Georgia
Children's Healthcare of Atlanta
Atlanta, Georgia, United States, 30329
Sponsors and Collaborators
Children's Healthcare of Atlanta
Emory University
University of Texas Southwestern Medical Center
University of California, San Francisco
Ben-Gurion University of the Negev
Brigham and Women's Hospital
Children's Hospital Medical Center, Cincinnati
Children's Hospital and Health System Foundation, Wisconsin
University of Puerto Rico
Investigators
Principal Investigator: Kirk Heiss, MD Children's Healthcare of Atlanta
More Information

Publications:
A literature search regarding this disease or condition was performed by the NHLBI Informationalist, Mary Ryan, NIH Library. The 5 key words utilized for this literature search were: nonmuscle myosin II, myosin II mutation, midline defects, Pentalogy of Cantrell, and Thoracoabdominal Syndrome. Please see attached sheets

Responsible Party: Children's Healthcare of Atlanta
ClinicalTrials.gov Identifier: NCT00477932     History of Changes
Other Study ID Numbers: 182-2006
First Posted: May 24, 2007    Key Record Dates
Last Update Posted: December 17, 2014
Last Verified: December 2014

Keywords provided by Children's Healthcare of Atlanta:
Pentalogy of Cantrell
mutations
DNA
RNA

Additional relevant MeSH terms:
Pentalogy of Cantrell
Neural Tube Defects
Nervous System Malformations
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities