Cardiomyopathy, Hypertrophic, FamilialNCT00001881
Signs and Symptoms of Genetic Abnormalities Linked to Inherited Heart Disease
An observational study of Cardiomyopathy, Hypertrophic, Familial, run by National Heart, Lung, and Blood Institute (NHLBI) at 1 site in United States.
Trial summary
Genetically inherited heart diseases (familial cardiomyopathies) are conditions affecting the heart passed on to family members through 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
- Cardiomyopathy, Hypertrophic, Familial
- How many people
- 9,999 participants
- Where
- 1 siteUnited States
- Study dates
- Mar 1999to Apr 2001
- 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
Individuals with cardiomyopathy referred for evaluation to the NIH.
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 Manifestations of Mutations in Genes Linked to Familial Cardiomyopathy
Genetically inherited heart diseases (familial cardiomyopathies) are conditions affecting the heart passed on to family members through abnormalities in genetic information. These conditions are responsible for many heart related deaths and illnesses.
In this study researchers hope to determine the signs and symptoms (clinical correlation) associated with specific genetic abnormalities causing inherited heart diseases.
Read more
In order to do this, researchers plan to evaluate patients and family members of patients diagnosed with inherited heart disease. Patients participating in the study will undergo several tests including blood tests, electrocardiograms (EKG), and echocardiograms. Patients may also be asked to undergo an MRI of the heart to provide a clearer picture of it.
Patients participating in this study may not be directly benefited by it. However, information gathered from the study may contribute to the medical care, treatment, and prevention of problems for others in the future.
Read the detailed description
Familial cardiomyopathy (FC) often demonstrates both non-allelic and allelic genetic heterogeneity. We propose to determine the clinical correlates of specific genetic defects which cause FC by identifying and expanding a set of kindreds with identical and distinct molecular defects.
- Conditions
- Cardiomyopathy, Hypertrophic, Familial
- Keywords
- Cardiac Hypertrophy, Genetics, Phenotypes, Hypertrophic Cardiomyopathy
- Medical subject headings
- Cardiomyopathy, Hypertrophic, Familial, Cardiomegaly, Cardiomyopathy, Hypertrophic
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Dec 2002 (estimated)
- Study startMar 1999
- Study completionApr 2001
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 Cardiomyopathy, Hypertrophic, FamilialStudies 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 participants
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00001881
- Sponsor's protocol ID
- 990065
- Other IDs
- 99-H-0065
- Status last verified
- Feb 2000
- First submitted
- 3 Nov 1999
- 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 7641346Wigle 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 7671349Fananapazir L, McAreavey D. Hypertrophic cardiomyopathy: evaluation and treatment of patients at high risk for sudden death. Pacing Clin Electrophysiol. 1997 Feb;20(2 Pt 2):478-501. doi: 10.1111/j.1540-8159.1997.tb06206.x.
PubMed 9058851
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 Manifestations of Mutations in Genes Linked to Familial Cardiomyopathy
- ClinicalTrials.gov ID
- NCT00001881
- Acronym / sponsor ID
- 990065
- Conditions
- Cardiomyopathy, Hypertrophic, Familial
- Keywords
- Cardiac Hypertrophy, Genetics, Phenotypes, Hypertrophic Cardiomyopathy
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 9,999 participants
- Lead sponsor
- National Heart, Lung, and Blood Institute (NHLBI)US National Institutes of Health
- Study start
- Mar 1999
- Study completion
- Apr 2001
- First posted
- 10 Dec 2002 (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 cardiomyopathies) are conditions affecting the heart passed on to family members through abnormalities in genetic information. These conditions are responsible for many heart related deaths and illnesses.
In this study researchers hope to determine the signs and symptoms (clinical correlation) associated with specific genetic abnormalities causing inherited heart diseases.
In order to do this, researchers plan to evaluate patients and family members of patients diagnosed with inherited heart disease. Patients participating in the study will undergo several tests including blood tests, electrocardiograms (EKG), and echocardiograms. Patients may also be asked to undergo an MRI of the heart to provide a clearer picture of it.
Patients participating in this study may not be directly benefited by it. However, information gathered from the study may contribute to the medical care, treatment, and prevention of problems for others in the future.
Detailed description
Familial cardiomyopathy (FC) often demonstrates both non-allelic and allelic genetic heterogeneity. We propose to determine the clinical correlates of specific genetic defects which cause FC by identifying and expanding a set of kindreds with identical and distinct molecular defects.
Study design
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
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 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.
- Background: PubMed 9058851Fananapazir L, McAreavey D. Hypertrophic cardiomyopathy: evaluation and treatment of patients at high risk for sudden death. Pacing Clin Electrophysiol. 1997 Feb;20(2 Pt 2):478-501. doi: 10.1111/j.1540-8159.1997.tb06206.x.
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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 Cardiomyopathy, Hypertrophic, Familial, 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.
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 NCT00001881, 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; AzTrials last refreshed its copy on 8 Nov 2026.