Pentalogy of CantrellNCT00477932
Genes Mutation Pentalogy of Cantrell
An observational study of Pentalogy of Cantrell and Mutations in Non-muscle Genes, run by Children's Healthcare of Atlanta at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 2 years and olderHealthy volunteers can take part
- Conditions the study is for
- Pentalogy of Cantrell, Mutations in Non-muscle Genes
- How many people
- 0 participants
- Where
- 1 siteUnited States
- Study dates
- Mar 2006to Jan 2012
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
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
Who may be able to join
- 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
Who cannot join
- screening for subjects who may be asymptomatic, but who could be carrying the gene
- we will exclude all children under the age of 2
Trial locations and contacts
1 site in 1 country.
United States1 site
Children's Healthcare of Atlanta
Atlanta, Georgia, 30329
About this study
Official title: Human Disease With Mutation of Nonmuscle Myosin Heavy Chain Genes
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.
Read the 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.
- Keywords
- Pentalogy of Cantrell, mutations, DNA, RNA
- Medical subject headings
- Pentalogy of Cantrell
What is being measured
The primary outcome is the main question the study is designed to answer.
•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
Measured: Undetermined
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 May 2007 (estimated)
- Study startMar 2006
- Primary completionJan 2012
- Study completionJan 2012
Why it stopped: Physician's chose to not follow through with the study.
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Pentalogy of CantrellStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Time perspective
- Prospective
- Enrolment
- 0 participants (actual)
Sponsor and investigators
- Lead sponsor
- Children's Healthcare of Atlanta
- Sponsor type
- University, hospital or other
- Collaborators
- 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
- Responsible party
- Sponsor
- Investigators
- Kirk Heiss, MD, Principal investigator, Children's Healthcare of Atlanta
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00477932
- Sponsor's protocol ID
- 182-2006
- Status last verified
- Dec 2014
- First submitted
- 22 May 2007
- Last updated
- 17 Dec 2014
- Results posted
- No
- Data monitoring committee
- No
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
Study at a glance
From the registry record, last updated by the sponsor on 17 Dec 2014. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Human Disease With Mutation of Nonmuscle Myosin Heavy Chain Genes
- ClinicalTrials.gov ID
- NCT00477932
- Acronym / sponsor ID
- 182-2006
- Keywords
- Pentalogy of Cantrell, mutations, DNA, RNA
- Study type
- Observational
- Recruitment status
- WithdrawnReason stopped: Physician's chose to not follow through with the study.
- Enrolment
- 0 participants (actual)
- Lead sponsor
- Children's Healthcare of AtlantaUniversity, hospital or other
- Collaborators
- 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
- Study start
- Mar 2006
- Primary completion
- Jan 2012 (actual)
- Study completion
- Jan 2012 (actual)
- First posted
- 24 May 2007 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 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
- Time perspective
- Prospective
Who may qualify
- Ages
- 2 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- 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
Key inclusion criteria (3 listed)
- 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
Key exclusion criteria (2 listed)
- screening for subjects who may be asymptomatic, but who could be carrying the gene
- we will exclude all children under the age of 2
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
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
Results and safety
The study was withdrawn before enrolling participants, so there are no results.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Dec 2014.
- BackgroundA 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
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Kirk Heiss, MD principal investigator
Children's Healthcare of Atlanta
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Pentalogy of Cantrell and Mutations in Non-muscle Genes, run by Children's Healthcare of Atlanta at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: withdrawn, as of the sponsor's last update on 17 Dec 2014. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was withdrawn before enrolling participants, so there are no results.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
•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). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00477932, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 17 Dec 2014.