Hypertrophic CardiomyopathyNCT00001225
Family Studies of Inherited Heart Disease
An observational study of Hypertrophic Cardiomyopathy, run by National Heart, Lung, and Blood Institute (NHLBI) at 1 site in United States.
Trial summary
Hypertrophic cardiomyopathy (HCM) is a genetically inherited heart disease. It causes thickening of heart muscle, especially the chamber responsible for pumping blood out of the heart, the left ventricle. Hypertrophic cardiomyopathy (HCM) is the most important cause of sudden death in apparently healthy young people. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Hypertrophic Cardiomyopathy
- How many people
- 5,880 participants
- Where
- 1 siteUnited States
- Study dates
- Apr 1987to Aug 2002
- 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
- Healthy volunteers accepted
- Child, Adult, Older adult
INLUSION CRITERIA
Patients with a family history of hypertrophic cardiomyopathy are eligible.
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: Family Studies of Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy (HCM) is a genetically inherited heart disease. It causes thickening of heart muscle, especially the chamber responsible for pumping blood out of the heart, the left ventricle. Hypertrophic cardiomyopathy (HCM) is the most important cause of sudden death in apparently healthy young people.
A genetic test called linkage analysis is used to locate genes causing inherited diseases like HCM. Linkage analysis requires large families to be evaluated clinically in order to identify the members with and without the disease.
Read more
In this study researchers will collect samples of DNA from family members of patients with HCM. The diagnosis of the disease will be made by history and physical examination, electrocardiogram (12 lead ECG), and ultrasound of the heart (2-D echocardiogram). The ability of the researchers to locate the gene responsible for the disease improves with increases in the size of the family and members evaluated.
In order to continue research on the genetic causes of heart disease, researchers intend on studying families with specific genetic mutations (beta-MHC) causing HCM. Researcher plan to also study families with HCM not linked to specific gene mutations (beta-MHC).
Read the detailed description
Hypertrophic cardiomyopathy (HCM) is the most important cause of sudden death in apparently healthy young individuals but its clinical manifestations are highly variable. Linkage analysis is used to localize a gene causing an inherited autosomal dominant disease, such as HCM. Linkage analysis requires that large families be evaluated clinically to determine the members with and without the disease. For this study, DNA needs to be extracted from blood samples of family members. The presence of the disease is determined by history and physical exam, 12 lead ECG and 2-D echocardiogram. The likelihood of localizing the gene increases with the size of the family and the number of members evaluated. The beta myosin heavy chain (beta-MHC) gene has been shown to be responsible for HCM in 10%-30% of affected kindreds. Other linage studies have shown that there are at least 3 other genes which cause HCM in other kindreds, but these genes are presently unknown. We have identified 13 unique mutations in the beta-MHC gene which cause the disease in 17 kindreds. This has allowed us to demonstrate skeletal muscle involvement, study the abnormal physiology which is a consequence of the mutations, make pre-symptomatic diagnosis, and redefine the natural history of the disease. In order to continue our clinical and laboratory studies of this disease over the next 3 years, it is our intention to identify 50 additional HCM kindreds, with approximately 50 members each, that have beta-MHC gene mutations. During this time, in order to map other HCM genes, we will also evaluate at least 6 families, of approximately 300 members each, in which the disease is not linked to the beta-MHC gene.
- Conditions
- Hypertrophic Cardiomyopathy
- Keywords
- DNA Polymorphisms, Echocardiography, Gene Mapping, Linkage Analysis, Hypertrophic Cardiomyopathy
- Medical subject headings
- Cardiomyopathy, Hypertrophic
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Nov 1999 (estimated)
- Study startApr 1987
- Study completionAug 2002
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 Hypertrophic CardiomyopathyStudies 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
- 5,880 participants
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00001225
- Sponsor's protocol ID
- 870057
- Other IDs
- 87-H-0057
- Status last verified
- Aug 2002
- First submitted
- 3 Nov 1999
- Last updated
- 4 Mar 2008
- Results posted
- No
Publications
Tanigawa G, Jarcho JA, Kass S, Solomon SD, Vosberg HP, Seidman JG, Seidman CE. A molecular basis for familial hypertrophic cardiomyopathy: an alpha/beta cardiac myosin heavy chain hybrid gene. Cell. 1990 Sep 7;62(5):991-8. doi: 10.1016/0092-8674(90)90273-h.
PubMed 2144212Geisterfer-Lowrance AA, Kass S, Tanigawa G, Vosberg HP, McKenna W, Seidman CE, Seidman JG. A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Cell. 1990 Sep 7;62(5):999-1006. doi: 10.1016/0092-8674(90)90274-i.
PubMed 1975517Hejtmancik JF, Brink PA, Towbin J, Hill R, Brink L, Tapscott T, Trakhtenbroit A, Roberts R. Localization of gene for familial hypertrophic cardiomyopathy to chromosome 14q1 in a diverse US population. Circulation. 1991 May;83(5):1592-7. doi: 10.1161/01.cir.83.5.1592.
PubMed 2022018
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
- Family Studies of Hypertrophic Cardiomyopathy
- ClinicalTrials.gov ID
- NCT00001225
- Acronym / sponsor ID
- 870057
- Conditions
- Hypertrophic Cardiomyopathy
- Keywords
- DNA Polymorphisms, Echocardiography, Gene Mapping, Linkage Analysis, Hypertrophic Cardiomyopathy
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 5,880 participants
- Lead sponsor
- National Heart, Lung, and Blood Institute (NHLBI)US National Institutes of Health
- Study start
- Apr 1987
- Study completion
- Aug 2002
- First posted
- 4 Nov 1999 (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.
Hypertrophic cardiomyopathy (HCM) is a genetically inherited heart disease. It causes thickening of heart muscle, especially the chamber responsible for pumping blood out of the heart, the left ventricle. Hypertrophic cardiomyopathy (HCM) is the most important cause of sudden death in apparently healthy young people.
A genetic test called linkage analysis is used to locate genes causing inherited diseases like HCM. Linkage analysis requires large families to be evaluated clinically in order to identify the members with and without the disease.
In this study researchers will collect samples of DNA from family members of patients with HCM. The diagnosis of the disease will be made by history and physical examination, electrocardiogram (12 lead ECG), and ultrasound of the heart (2-D echocardiogram). The ability of the researchers to locate the gene responsible for the disease improves with increases in the size of the family and members evaluated.
In order to continue research on the genetic causes of heart disease, researchers intend on studying families with specific genetic mutations (beta-MHC) causing HCM. Researcher plan to also study families with HCM not linked to specific gene mutations (beta-MHC).
Detailed description
Hypertrophic cardiomyopathy (HCM) is the most important cause of sudden death in apparently healthy young individuals but its clinical manifestations are highly variable. Linkage analysis is used to localize a gene causing an inherited autosomal dominant disease, such as HCM. Linkage analysis requires that large families be evaluated clinically to determine the members with and without the disease. For this study, DNA needs to be extracted from blood samples of family members. The presence of the disease is determined by history and physical exam, 12 lead ECG and 2-D echocardiogram. The likelihood of localizing the gene increases with the size of the family and the number of members evaluated. The beta myosin heavy chain (beta-MHC) gene has been shown to be responsible for HCM in 10%-30% of affected kindreds. Other linage studies have shown that there are at least 3 other genes which cause HCM in other kindreds, but these genes are presently unknown. We have identified 13 unique mutations in the beta-MHC gene which cause the disease in 17 kindreds. This has allowed us to demonstrate skeletal muscle involvement, study the abnormal physiology which is a consequence of the mutations, make pre-symptomatic diagnosis, and redefine the natural history of the disease. In order to continue our clinical and laboratory studies of this disease over the next 3 years, it is our intention to identify 50 additional HCM kindreds, with approximately 50 members each, that have beta-MHC gene mutations. During this time, in order to map other HCM genes, we will also evaluate at least 6 families, of approximately 300 members each, in which the disease is not linked to the beta-MHC gene.
Study design
Who may qualify
- Sex
- All
- Healthy volunteers
- 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 2144212Tanigawa G, Jarcho JA, Kass S, Solomon SD, Vosberg HP, Seidman JG, Seidman CE. A molecular basis for familial hypertrophic cardiomyopathy: an alpha/beta cardiac myosin heavy chain hybrid gene. Cell. 1990 Sep 7;62(5):991-8. doi: 10.1016/0092-8674(90)90273-h.
- Background: PubMed 1975517Geisterfer-Lowrance AA, Kass S, Tanigawa G, Vosberg HP, McKenna W, Seidman CE, Seidman JG. A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Cell. 1990 Sep 7;62(5):999-1006. doi: 10.1016/0092-8674(90)90274-i.
- Background: PubMed 2022018Hejtmancik JF, Brink PA, Towbin J, Hill R, Brink L, Tapscott T, Trakhtenbroit A, Roberts R. Localization of gene for familial hypertrophic cardiomyopathy to chromosome 14q1 in a diverse US population. Circulation. 1991 May;83(5):1592-7. doi: 10.1161/01.cir.83.5.1592.
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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 Hypertrophic Cardiomyopathy, 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 NCT00001225, 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.