Congenital Heart DefectsNCT00579358
Molecular Basis of Congenital Heart Defects
An observational study of Congenital Heart Defects, run by University of California, Irvine at 1 site in United States.
Trial summary
Congenital heart disease is one of the most common malformations in newborns. About 1% of newborns have cardiac malformations. Many need open heart surgery, which contributes substantially to pediatric mortality and morbidity. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Congenital Heart Defects
- How many people
- 0 participants
- Where
- 1 siteUnited States
- Study dates
- Nov 2007to Nov 2007
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: The characteristics of the proposed subject population include: * Children (male or female) who are able to give assent * Subjects diagnosed with congenital heart defects * Adults (male or female) who are competent to give informed consent * Subjects who are unable to read or speak English * Individuals of any ethnic origin
Who may be able to join
- Adults and children (both parent's signature required) who are able to give informed consent
- Adults or children who are prior diagnosed with congenital heart disease and/or who has immediate family member(s) with congenital heart disease (immediate family members include: subject's parents, siblings, and subject's children)
- If subject is the only one affected and subject does not disclose of any family member being affected, than only subject will be enrolled
- If subject is affected and disclose that a family member is affected, that family member will be contacted (with permission) to participate in the study
- Patients of all ethnical origin
Who cannot join
- Patients diagnosed with no congenital heart disease (as determined by their medical assessment); (if subjects who are unaffected disclose that a family member is affected, with permission, that family will be contacted for participation)
- Patients who are unable to provide informed consent/assent
Trial locations and contacts
1 site in 1 country.
About this study
Congenital heart disease is one of the most common malformations in newborns. About 1% of newborns have cardiac malformations. Many need open heart surgery, which contributes substantially to pediatric mortality and morbidity. Recent advances in genetics suggest that many congenital heart defects are caused by mutation of genes. So far, half a dozen genes are found to be associated with congenital heart diseases, such as TBX5, NKX2.5, and GATA4, to name a few. In the near future, more genes will be identified.
This study will evaluate the role of mutation of genes in congenital heart diseases and study the genotype-phenotype correlation. The central hypothesis is that a significant percentage of congenital heart disease is caused by mutation of genes involved in heart development, and the phenotype with missensed mutations is milder than nonsense mutation. Another hypothesis is that a significant proportion of patients with cardiac malformations will have mutations in their genes. The specific aim is to test the mutations of these genes in patients with congenital heart diseases. The study will provide substantial information to understand how the human heart develops. In the future, prenatal diagnosis could be developed based on this study.
Read the detailed description
Purpose:
The purpose of this study is to evaluate the role of mutation of genes in congenital heart diseases and study the genotype-phenotype correlation.
Hypothesis:
The central hypothesis is that a significant percentage of congenital heart disease is caused by mutation of genes involved in heart development, and the phenotype with missensed mutations is milder than nonsense mutation. Another hypothesis is that a significant proportion of patients with cardiac malformations will have mutations in their genes. The specific aim is to test the mutations of these genes in patients with congenital heart diseases.
Study Design and Procedures:
This is a pilot study on mutation of genes in congenital heart diseases and genotype-phenotype correlation. Probands and family members are initially evaluated by a local physician or at the UCI Medical Center. A clinical diagnosis is made based on clinical information, echocardiography, EKG, and/or cardiac catheteration.
We would like to correlate the mutation the specific type of congenital heart defect. For example, if mutations of TBX5 more likely cause atrial-septal defects, ventricular-septal defects; mutations PTPN11 is more likely cause pulmonary stenosis.
- Conditions
- Congenital Heart Defects
- Keywords
- Congenital heart defects
- Medical subject headings
- Heart Defects, Congenital
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Dec 2007 (estimated)
- Study startNov 2007
- Primary completionNov 2007
- Study completionNov 2007
Why it stopped: Nonapplicable clinical trial
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Congenital Heart DefectsStudies of the same condition, open and under way.
- More trials run by University of California, IrvineThe sponsor's other registered studies.
- 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
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 0 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of California, Irvine
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Taosheng Huang, MD, Principal investigator, University of California, Irvine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00579358
- Sponsor's protocol ID
- OCRT07001 [2007-5805]
- Other IDs
- HS# 2007-5805
- Status last verified
- Jan 2021
- First submitted
- 18 Dec 2007
- Last updated
- 25 Jan 2021
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 25 Jan 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Molecular Basis of Congenital Heart Defects
- ClinicalTrials.gov ID
- NCT00579358
- Acronym / sponsor ID
- OCRT07001 [2007-5805]
- Conditions
- Congenital Heart Defects
- Keywords
- Congenital heart defects
- Study type
- Observational
- Recruitment status
- WithdrawnReason stopped: Nonapplicable clinical trial
- Enrolment
- 0 participants (actual)
- Lead sponsor
- University of California, IrvineUniversity, hospital or other
- Study start
- Nov 2007 (actual)
- Primary completion
- Nov 2007 (actual)
- Study completion
- Nov 2007 (actual)
- First posted
- 24 Dec 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.
Congenital heart disease is one of the most common malformations in newborns. About 1% of newborns have cardiac malformations. Many need open heart surgery, which contributes substantially to pediatric mortality and morbidity. Recent advances in genetics suggest that many congenital heart defects are caused by mutation of genes. So far, half a dozen genes are found to be associated with congenital heart diseases, such as TBX5, NKX2.5, and GATA4, to name a few. In the near future, more genes will be identified.
This study will evaluate the role of mutation of genes in congenital heart diseases and study the genotype-phenotype correlation. The central hypothesis is that a significant percentage of congenital heart disease is caused by mutation of genes involved in heart development, and the phenotype with missensed mutations is milder than nonsense mutation. Another hypothesis is that a significant proportion of patients with cardiac malformations will have mutations in their genes. The specific aim is to test the mutations of these genes in patients with congenital heart diseases. The study will provide substantial information to understand how the human heart develops. In the future, prenatal diagnosis could be developed based on this study.
Detailed description
Purpose:
The purpose of this study is to evaluate the role of mutation of genes in congenital heart diseases and study the genotype-phenotype correlation.
Hypothesis:
The central hypothesis is that a significant percentage of congenital heart disease is caused by mutation of genes involved in heart development, and the phenotype with missensed mutations is milder than nonsense mutation. Another hypothesis is that a significant proportion of patients with cardiac malformations will have mutations in their genes. The specific aim is to test the mutations of these genes in patients with congenital heart diseases.
Study Design and Procedures:
This is a pilot study on mutation of genes in congenital heart diseases and genotype-phenotype correlation. Probands and family members are initially evaluated by a local physician or at the UCI Medical Center. A clinical diagnosis is made based on clinical information, echocardiography, EKG, and/or cardiac catheteration.
We would like to correlate the mutation the specific type of congenital heart defect. For example, if mutations of TBX5 more likely cause atrial-septal defects, ventricular-septal defects; mutations PTPN11 is more likely cause pulmonary stenosis.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The characteristics of the proposed subject population include: * Children (male or female) who are able to give assent * Subjects diagnosed with congenital heart defects * Adults (male or female) who are competent to give informed consent * Subjects who are unable to read or speak English * Individuals of any ethnic origin
Key inclusion criteria (5 listed)
- Adults and children (both parent's signature required) who are able to give informed consent
- Adults or children who are prior diagnosed with congenital heart disease and/or who has immediate family member(s) with congenital heart disease (immediate family members include: subject's parents, siblings, and subject's children)
- Patients of all ethnical origin
Key exclusion criteria (2 listed)
- Patients diagnosed with no congenital heart disease (as determined by their medical assessment); (if subjects who are unaffected disclose that a family member is affected, with permission, that family will be contacted for participation)
- Patients who are unable to provide informed consent/assent
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
Not reported in the source record.
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 25 Jan 2021.
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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.
Taosheng Huang, MD principal investigator
University of California, Irvine
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 Congenital Heart Defects, run by University of California, Irvine 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 5 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 25 Jan 2021. 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.
Where can I read the original study information?
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 25 Jan 2021.