Heart Septal Defects, VentricleNCT00497705
Genes Causing Ebstein's Anomaly
An observational study of Heart Septal Defects, Ventricle and Heart Defects, Congenital, run by National Heart, Lung, and Blood Institute (NHLBI) at 3 sites in 3 countries.
Trial summary
This study will investigate Ebstein's anomaly, a congenital abnormality of the tricuspid valve of the heart and try to identify the genetic origins of the disease. Adults and children 2 years of age and older with Ebstein's anomaly and healthy volunteers may be eligible for this study. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Heart Septal Defects, Ventricle, Heart Defects, Congenital, Double Outlet Right Ventricle
- How many people
- Not given
- Where
- 3 sitesin 3 countries
- Study dates
- 3 Jul 2007to 7 Jul 2009
- 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
Who may be able to join
- Patients who have diagnosed Ebstein's anomaly or tricuspid valve disease in Belarus or Ukraine and their parents will be asked to participate in this study regardless of sex, age, or race. In addition, sex and age matched neighborhood children and their parents will be recruited as controls. There is no known ethnic or racial predilection for Ebstein's anomaly or tricuspid valve disease.
Who cannot join
- There are no exclusion criteria. This may allow us to discover previously unknown relationships between Ebstein's anomaly and other diseases.
Trial locations and contacts
3 sites in 3 countries.
3 sites in 3 countries
United States1 site
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, 20892
Belarus1 site
Republican Scientific and Clinical Cardiology Center
Republic of Belarus
About this study
Official title: Genes Causing Congenital Ebstein's Anomaly
This study will investigate Ebstein's anomaly, a congenital abnormality of the tricuspid valve of the heart and try to identify the genetic origins of the disease.
Adults and children 2 years of age and older with Ebstein's anomaly and healthy volunteers may be eligible for this study. Participants undergo the following procedures:
- Blood tests: Three tube of blood will be collected, with the total amount limited to about half a teaspon for each two pounds of body weight.
- Saliva sample collection: A small amount of saliva is collected by spitting into a sterile container.
- Oral (cheek) swab: Cells are collected from the mouth using a soft brush to swab the inside lining of the cheek.
- Electrocardiogram: The electrical activity of the heart is recorded using electrodes placed on the chest.
- Echocardiogram: Heart function is assessed using ultrasound.
Read the detailed description
The goal of this study is to elucidate the genetic basis for the congenital heart disease (CHD) known as Ebstein's anomaly. These studies complement ongoing research studies using mouse models to recover mutations causing structural heart defects associated with human CHD. By elucidating the underlying genetic causes for Ebstien's anomaly, it may be possible to improve risk assessments as well as facilitate the development of new strategies for prevention and disease management. These studies are important for early diagnosis and the management of complications associated with surviving adults with Ebstein's anomaly, some of whom have undergone surgical correction and others that are unoperated.
- Conditions
- Heart Septal Defects, Ventricle, Heart Defects, Congenital, Double Outlet Right Ventricle, Truncus Arteriosus, Persistent
- Keywords
- Ebsteins Anomaly, Heart Septal Defects, Ventricle, Heart Defects, Congenital, Double Outlet Right Ventricle, Truncus Arteriosus Persistant, Ebstein's Anomaly, Congenital Heart Disease, Heart Defects
- Medical subject headings
- Heart Septal Defects, Heart Defects, Congenital, Double Outlet Right Ventricle, Truncus Arteriosus, Persistent, Ebstein Anomaly
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Jul 2007 (estimated)
- Study start3 Jul 2007
- Primary completion7 Jul 2009
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 Heart Septal Defects, VentricleStudies 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
- Time perspective
- Prospective
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00497705
- Sponsor's protocol ID
- 070186
- Other IDs
- 07-H-0186
- Status last verified
- 7 Jul 2009
- First submitted
- 6 Jul 2007
- Last updated
- 2 Jul 2017
- Results posted
- No
Publications
Abu-Issa R, Waldo K, Kirby ML. Heart fields: one, two or more? Dev Biol. 2004 Aug 15;272(2):281-5. doi: 10.1016/j.ydbio.2004.05.016. No abstract available.
PubMed 15282148Attenhofer Jost CH, Connolly HM, Dearani JA, Edwards WD, Danielson GK. Ebstein's anomaly. Circulation. 2007 Jan 16;115(2):277-85. doi: 10.1161/CIRCULATIONAHA.106.619338. No abstract available.
PubMed 17228014Basson CT, Bachinsky DR, Lin RC, Levi T, Elkins JA, Soults J, Grayzel D, Kroumpouzou E, Traill TA, Leblanc-Straceski J, Renault B, Kucherlapati R, Seidman JG, Seidman CE. Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome. Nat Genet. 1997 Jan;15(1):30-5. doi: 10.1038/ng0197-30.
PubMed 8988165
Study at a glance
From the registry record, last updated by the sponsor on 2 Jul 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genes Causing Congenital Ebstein's Anomaly
- ClinicalTrials.gov ID
- NCT00497705
- Acronym / sponsor ID
- 070186
- Conditions
- Heart Septal Defects, Ventricle, Heart Defects, Congenital, Double Outlet Right Ventricle, Truncus Arteriosus, Persistent
- Keywords
- Ebsteins Anomaly, Heart Septal Defects, Ventricle, Heart Defects, Congenital, Double Outlet Right Ventricle, Truncus Arteriosus Persistant, Ebstein's Anomaly, Congenital Heart Disease, Heart Defects
- Study type
- Observational
- Recruitment status
- Completed
- Lead sponsor
- National Heart, Lung, and Blood Institute (NHLBI)US National Institutes of Health
- Study start
- 3 Jul 2007
- Primary completion
- 7 Jul 2009 (actual)
- First posted
- 9 Jul 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 investigate Ebstein's anomaly, a congenital abnormality of the tricuspid valve of the heart and try to identify the genetic origins of the disease.
Adults and children 2 years of age and older with Ebstein's anomaly and healthy volunteers may be eligible for this study. Participants undergo the following procedures:
- Blood tests: Three tube of blood will be collected, with the total amount limited to about half a teaspon for each two pounds of body weight.
- Saliva sample collection: A small amount of saliva is collected by spitting into a sterile container.
- Oral (cheek) swab: Cells are collected from the mouth using a soft brush to swab the inside lining of the cheek.
- Electrocardiogram: The electrical activity of the heart is recorded using electrodes placed on the chest.
- Echocardiogram: Heart function is assessed using ultrasound.
Detailed description
The goal of this study is to elucidate the genetic basis for the congenital heart disease (CHD) known as Ebstein's anomaly. These studies complement ongoing research studies using mouse models to recover mutations causing structural heart defects associated with human CHD. By elucidating the underlying genetic causes for Ebstien's anomaly, it may be possible to improve risk assessments as well as facilitate the development of new strategies for prevention and disease management. These studies are important for early diagnosis and the management of complications associated with surviving adults with Ebstein's anomaly, some of whom have undergone surgical correction and others that are unoperated.
Study design
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (1 listed)
- Patients who have diagnosed Ebstein's anomaly or tricuspid valve disease in Belarus or Ukraine and their parents will be asked to participate in this study regardless of sex, age, or race. In addition, sex and age matched neighborhood children and their parents will be recruited as controls. There is no known ethnic or racial predilection for Ebstein's anomaly or tricuspid valve disease.
Key exclusion criteria (1 listed)
- There are no exclusion criteria. This may allow us to discover previously unknown relationships between Ebstein's anomaly and other diseases.
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 2 Jul 2017.
- Background: PubMed 15282148Abu-Issa R, Waldo K, Kirby ML. Heart fields: one, two or more? Dev Biol. 2004 Aug 15;272(2):281-5. doi: 10.1016/j.ydbio.2004.05.016. No abstract available.
- Background: PubMed 17228014Attenhofer Jost CH, Connolly HM, Dearani JA, Edwards WD, Danielson GK. Ebstein's anomaly. Circulation. 2007 Jan 16;115(2):277-85. doi: 10.1161/CIRCULATIONAHA.106.619338. No abstract available.
- Background: PubMed 8988165Basson CT, Bachinsky DR, Lin RC, Levi T, Elkins JA, Soults J, Grayzel D, Kroumpouzou E, Traill TA, Leblanc-Straceski J, Renault B, Kucherlapati R, Seidman JG, Seidman CE. Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome. Nat Genet. 1997 Jan;15(1):30-5. doi: 10.1038/ng0197-30.
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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.
3 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Heart Septal Defects, Ventricle and Heart Defects, Congenital, run by National Heart, Lung, and Blood Institute (NHLBI) at 3 sites in 3 countries.
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 1 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 2 Jul 2017. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in United States, Belarus, Ukraine. 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 NCT00497705, 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 2 Jul 2017.