Congenital Heart DefectNCT00027196
Signs and Symptoms Associated With Molecular Defects in Genetically Inherited Heart Disease
An observational study of Congenital Heart Defect, run by National Heart, Lung, and Blood Institute (NHLBI) at 1 site in United States.
Trial summary
Genetically inherited heart diseases (familial cardiopathies) are conditions affecting the heart passed on to family members by abnormalities in genetic information. These conditions are responsible for many heart related deaths and illnesses. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Congenital Heart Defect
- How many people
- 9,999,999 participants
- Where
- 1 siteUnited States
- Study dates
- Apr 1998to Apr 2003
- 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
Who may be able to join
- The subjects will consist of family members who may have inherited FC and spouses that may help in the linkage studies. Family members or spouses who do not wish to participate in the research protocol will be excluded from the study.
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Heart, Lung and Blood Institute (NHLBI)
Bethesda, Maryland, 20892
About this study
Official title: Clinical Correlates of Molecular Defects in Familial Cardiomyopathy
Genetically inherited heart diseases (familial cardiopathies) are conditions affecting the heart passed on to family members by abnormalities in genetic information. These conditions are responsible for many heart related deaths and illnesses.
Researchers are interested in learning more about the specific genetic abnormalities causing heart diseases. In addition, they would like to find out how these abnormal genes can contribute to the development of other medical problems.
Read more
In order to do this, researchers plan to study patients and family members of patients diagnosed with genetically inherited heart disease. Those people participating in the study will undergo a variety of tests including blood tests, echocardiograms, and magnetic resonance imaging studies (MRI). These tests will be used to help researchers find the genetic problem causing the familial cardiopathy.
Researchers hope that the information gathered from this study can be used to develop better medical care through early diagnosis, management, and treatment plans.
Read the detailed description
Familial cardiomyopathies (FC) are important cardiovascular causes of morbidity and mortality that demonstrate both allelic and non-allelic genetic heterogeneity. We propose to perform genetic studies to determine novel molecular causes of FC and to describe their clinical correlates. This will permit: (1) pre-symptomatic diagnosis; (2) definition of cardiac phenotype, disease penetrance; (3) natural history; (4) study of abnormal physiology that is a consequence of the molecular defect; (5) elucidation of specific mechanisms of arrythmias and sudden death; and (6) demonstration and characterization of skeletal muscle involvement.
- Conditions
- Congenital Heart Defect
- Keywords
- Genetics, Cardiac Diseases, Cardiac Hypertrophy, Sudden Death, Arrhythmias
- Medical subject headings
- Heart Defects, Congenital, Heart Diseases, Cardiomegaly, Death, Sudden, Arrhythmias, Cardiac
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Nov 2001 (estimated)
- Study startApr 1998
- Study completionApr 2003
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Congenital Heart DefectStudies of the same condition, open and under way.
- More trials run by National Heart, Lung, and Blood Institute (NHLBI)The 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
- Enrolment
- 9,999,999 participants
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00027196
- Sponsor's protocol ID
- 980100
- Other IDs
- 98-H-0100
- Status last verified
- Apr 2003
- First submitted
- 27 Nov 2001
- Last updated
- 4 Mar 2008
- Results posted
- No
Publications
Fananapazir L, Epstein ND. Prevalence of hypertrophic cardiomyopathy and limitations of screening methods. Circulation. 1995 Aug 15;92(4):700-4. doi: 10.1161/01.cir.92.4.700. No abstract available.
PubMed 7641346Maron BJ, Bonow RO, Cannon RO 3rd, Leon MB, Epstein SE. Hypertrophic cardiomyopathy. Interrelations of clinical manifestations, pathophysiology, and therapy (1). N Engl J Med. 1987 Mar 26;316(13):780-9. doi: 10.1056/NEJM198703263161305. No abstract available.
PubMed 3547130Wigle ED, Rakowski H, Kimball BP, Williams WG. Hypertrophic cardiomyopathy. Clinical spectrum and treatment. Circulation. 1995 Oct 1;92(7):1680-92. doi: 10.1161/01.cir.92.7.1680.
PubMed 7671349
Study at a glance
From the registry record, last updated by the sponsor on 4 Mar 2008. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical Correlates of Molecular Defects in Familial Cardiomyopathy
- ClinicalTrials.gov ID
- NCT00027196
- Acronym / sponsor ID
- 980100
- Conditions
- Congenital Heart Defect
- Keywords
- Genetics, Cardiac Diseases, Cardiac Hypertrophy, Sudden Death, Arrhythmias
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 9,999,999 participants
- Lead sponsor
- National Heart, Lung, and Blood Institute (NHLBI)US National Institutes of Health
- Study start
- Apr 1998
- Study completion
- Apr 2003
- First posted
- 28 Nov 2001 (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.
Genetically inherited heart diseases (familial cardiopathies) are conditions affecting the heart passed on to family members by abnormalities in genetic information. These conditions are responsible for many heart related deaths and illnesses.
Researchers are interested in learning more about the specific genetic abnormalities causing heart diseases. In addition, they would like to find out how these abnormal genes can contribute to the development of other medical problems.
In order to do this, researchers plan to study patients and family members of patients diagnosed with genetically inherited heart disease. Those people participating in the study will undergo a variety of tests including blood tests, echocardiograms, and magnetic resonance imaging studies (MRI). These tests will be used to help researchers find the genetic problem causing the familial cardiopathy.
Researchers hope that the information gathered from this study can be used to develop better medical care through early diagnosis, management, and treatment plans.
Detailed description
Familial cardiomyopathies (FC) are important cardiovascular causes of morbidity and mortality that demonstrate both allelic and non-allelic genetic heterogeneity. We propose to perform genetic studies to determine novel molecular causes of FC and to describe their clinical correlates. This will permit: (1) pre-symptomatic diagnosis; (2) definition of cardiac phenotype, disease penetrance; (3) natural history; (4) study of abnormal physiology that is a consequence of the molecular defect; (5) elucidation of specific mechanisms of arrythmias and sudden death; and (6) demonstration and characterization of skeletal muscle involvement.
Study design
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (1 listed)
- The subjects will consist of family members who may have inherited FC and spouses that may help in the linkage studies. Family members or spouses who do not wish to participate in the research protocol will be excluded from the study.
Key exclusion criteria (0 listed)
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 is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Mar 2008.
- Background: PubMed 7641346Fananapazir L, Epstein ND. Prevalence of hypertrophic cardiomyopathy and limitations of screening methods. Circulation. 1995 Aug 15;92(4):700-4. doi: 10.1161/01.cir.92.4.700. No abstract available.
- Background: PubMed 3547130Maron BJ, Bonow RO, Cannon RO 3rd, Leon MB, Epstein SE. Hypertrophic cardiomyopathy. Interrelations of clinical manifestations, pathophysiology, and therapy (1). N Engl J Med. 1987 Mar 26;316(13):780-9. doi: 10.1056/NEJM198703263161305. No abstract available.
- Background: PubMed 7671349Wigle ED, Rakowski H, Kimball BP, Williams WG. Hypertrophic cardiomyopathy. Clinical spectrum and treatment. Circulation. 1995 Oct 1;92(7):1680-92. doi: 10.1161/01.cir.92.7.1680.
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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.
The record lists no contact. Use the official record to reach the sponsor.
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 Defect, run by National Heart, Lung, and Blood Institute (NHLBI) 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 1 inclusion and 0 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: finished, as of the sponsor's last update on 4 Mar 2008. 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 is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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?
On the ClinicalTrials.gov record for NCT00027196, which also lists 3 linked publications.
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 4 Mar 2008.