Congenital Heart DiseaseNCT00341133
Genetic Analysis of Left-Right Axis Formations
An observational study of Congenital Heart Disease, run by National Human Genome Research Institute (NHGRI) at 1 site in United States.
Trial summary
The objective of these studies is to identify genetic factors that contribute to the pathogenesis of complex congenital heart disease and other more rare conditions resulting from disturbances in organ positioning. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Congenital Heart Disease
- How many people
- 900 participants
- Where
- 1 siteUnited States
- Study dates
- 13 Dec 1999to 27 Nov 2006
- 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
- This research protocol is open to all participants with a known or suspected diagnosis of L-R axis malformations. Nationality or place of origin are not specific barriers to participation, provided that a blood or tissue sample can be safely sent by international FedEx (to be billed to our account).
- Direct blood relatives (typicially parents, and occasionally affected siblings) of patients with L-R malformations are also eligible to participate.
Who cannot join
- Anyone unwilling to provide informed consent (for themselves as adults, or on behalf of their children as minors) or assent.
- Medical condition(s) are not in themselves reason for exclusion if in the judgment of the referring physician this would involve no more than minimal risk.
- We generally review a brief clinical description from the referring physician about a potential research subject to determine that the subject is appropriate to enter into the study. We reserve the right to exclude cases that are clearly not related to our direct research interests (e.g. patients born with defects in the heart chambers, such as simple atrial or ventricular septal defects, would generally be excluded from this study).
Trial locations and contacts
1 site in 1 country.
United States1 site
National Human Genome Research Institute (NHGRI), 9000 Rockville Pike
Bethesda, Maryland, 20892
About this study
Official title: Genetic Analysis of Left-Right Axis Malformations
The objective of these studies is to identify genetic factors that contribute to the pathogenesis of complex congenital heart disease and other more rare conditions resulting from disturbances in organ positioning. These are a group of medical conditions that are thought to stem from a poorly understood disturbance in the establishment of the basic body plan in the embryo. While the outside of the human body is generally symmetric with mirror image left and right sides, the positions of some internal organs are distinctly asymmetric. For example, the heart could not function properly as a mechanical pump if its connections to major blood vessels retained their initial symmetry. The left ventricle of the heart normally pumps blood to the body, while the right ventricle normally pumps blood to the lungs. Reversals in these blood vessel connections can be fatal. Similarly, the gut characteristically loops in a counterclockwise direction placing the stomach on the left side in most cases. Rare laterality anomalies can occur if this looping is in the other direction, or randomized (equally likely to loop in either direction). Serious medical problems can be caused by disturbances in the establishment, or maintenance of left-right (L-R) differences as key organs are developing in the embryo.
We have established formal collaborative agreements with three major centers who have collected a large number of coded cases of congenital cardiac disease. Our research objective is to try to understand if specific genetic changes can contribute to a range of cardiac malformations. We utilize mutational analysis of candidate genes as our principal tool to study the genetics of L-R axis malformations. This protocol is also open to other conditions whose basis is also thought to result from L-R problems. In all cases, the patients continue under the care of the referring physician. We anticipate a minor role of NIH researchers and genetic counseling services if subjects either do not have, or cannot afford, similar services in their local area.
Read more
This is not a treatment protocol. Our empiric ability to generate medically significant research results is limited by the extensive genetic and other etiologic heterogeneity. Therefore, this research is not a diagnostic study. At this stage of research, we are not sufficiently confident that our research results will have direct medical implications for research subjects.
Results that are of potential medical importance will be discussed with the primary physician who is (in most cases) a trained cardiologist (and/or medical geneticist). We will emphasize that these are only preliminary research findings, that they are not CLIA-approved, and must be disclosed to the patient or included in the medical record. Repeat testing in a CLIA-approved lab under another protocol would be required before the genetic information could be shared with the patient and family.
Read the detailed description
The objective of these studies is to identify genetic factors that contribute to the pathogenesis of complex congenital heart disease and other more rare conditions resulting from disturbances in organ positioning. These are a group of medical conditions that are thought to stem from a poorly understood disturbance in the establishment of the basic body plan in the embryo. While the outside of the human body is generally symmetric with mirror image left and right sides, the positions of some internal organs are distinctly asymmetric. For example, the heart could not function properly as a mechanical pump if its connections to major blood vessels retained their initial symmetry. The left ventricle of the heart normally pumps blood to the body, while the right ventricle normally pumps blood to the lungs. Reversals in these blood vessel connections can be fatal. Similarly, the gut characteristically loops in a counterclockwise direction placing the stomach on the left side in most cases. Rare laterality anomalies can occur if this looping is in the other direction, or randomized (equally likely to loop in either direction). Serious medical problems can be caused by disturbances in the establishment, or maintenance of left-right (L-R) differences as key organs are developing in the embryo.
We have established formal collaborative agreements with three major centers who have collected a large number of coded cases of congenital cardiac disease. Our research objective is to try to understand if specific genetic changes can contribute to a range of cardiac malformations. We utilize mutational analysis of candidate genes as our principal tool to study the genetics of L-R axis malformations (e.g. denaturing high performance liquid chromatography, dHPLC, or similar methods). This protocol is also open to other conditions whose basis is also thought to result from L-R problems. In all cases, the patients continue under the care of the referring physician. We anticipate a minor role of NIH researchers and genetic counseling services if subjects either do not have, or cannot afford, similar services in their local area.
This is not a treatment protocol. Our empiric ability to generate medically significant research results is limited by the extensive genetic and other etiologic heterogeneity. Therefore, this research is not a diagnostic study. At this stage of research, we are not sufficiently confident that our research results will have direct medical implications for research subjects.
Results that are of potential medical importance will be discussed with the primary physician who is (in most cases) a trained cardiologist (and/or medical geneticist). We will emphasize that these are only preliminary research findings, that they are not CLIA-approved, and must be disclosed to the patient or included in the medical record. Repeat testing in a CLIA-approved lab under another protocol would be required before the genetic information could be shared with the patient and family.
- Conditions
- Congenital Heart Disease
- Keywords
- Laterality, Heterotaxy, Holoprosencephaly, Genetic Testing, Congential Cardiac Malformations, Disturbed Internal Organ Positioning
- Medical subject headings
- Heart Defects, Congenital, Situs Inversus, Holoprosencephaly
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Jun 2006 (estimated)
- Study start13 Dec 1999
- Primary completion27 Nov 2006
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Congenital Heart DiseaseStudies of the same condition, open and under way.
- 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
- 900 participants
Sponsor and investigators
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- Sponsor type
- US National Institutes of Health
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00341133
- Sponsor's protocol ID
- 999999054
- Other IDs
- OH99-HG-N054
- Status last verified
- 4 Aug 2009
- First submitted
- 19 Jun 2006
- Last updated
- 2 Jul 2017
- Results posted
- No
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
- Genetic Analysis of Left-Right Axis Malformations
- ClinicalTrials.gov ID
- NCT00341133
- Acronym / sponsor ID
- 999999054
- Conditions
- Congenital Heart Disease
- Keywords
- Laterality, Heterotaxy, Holoprosencephaly, Genetic Testing, Congential Cardiac Malformations, Disturbed Internal Organ Positioning
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 900 participants
- Lead sponsor
- National Human Genome Research Institute (NHGRI)US National Institutes of Health
- Study start
- 13 Dec 1999
- Primary completion
- 27 Nov 2006 (actual)
- First posted
- 21 Jun 2006 (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.
The objective of these studies is to identify genetic factors that contribute to the pathogenesis of complex congenital heart disease and other more rare conditions resulting from disturbances in organ positioning. These are a group of medical conditions that are thought to stem from a poorly understood disturbance in the establishment of the basic body plan in the embryo. While the outside of the human body is generally symmetric with mirror image left and right sides, the positions of some internal organs are distinctly asymmetric. For example, the heart could not function properly as a mechanical pump if its connections to major blood vessels retained their initial symmetry. The left ventricle of the heart normally pumps blood to the body, while the right ventricle normally pumps blood to the lungs. Reversals in these blood vessel connections can be fatal. Similarly, the gut characteristically loops in a counterclockwise direction placing the stomach on the left side in most cases. Rare laterality anomalies can occur if this looping is in the other direction, or randomized (equally likely to loop in either direction). Serious medical problems can be caused by disturbances in the establishment, or maintenance of left-right (L-R) differences as key organs are developing in the embryo.
We have established formal collaborative agreements with three major centers who have collected a large number of coded cases of congenital cardiac disease. Our research objective is to try to understand if specific genetic changes can contribute to a range of cardiac malformations. We utilize mutational analysis of candidate genes as our principal tool to study the genetics of L-R axis malformations. This protocol is also open to other conditions whose basis is also thought to result from L-R problems. In all cases, the patients continue under the care of the referring physician. We anticipate a minor role of NIH researchers and genetic counseling services if subjects either do not have, or cannot afford, similar services in their local area.
This is not a treatment protocol. Our empiric ability to generate medically significant research results is limited by the extensive genetic and other etiologic heterogeneity. Therefore, this research is not a diagnostic study. At this stage of research, we are not sufficiently confident that our research results will have direct medical implications for research subjects.
Results that are of potential medical importance will be discussed with the primary physician who is (in most cases) a trained cardiologist (and/or medical geneticist). We will emphasize that these are only preliminary research findings, that they are not CLIA-approved, and must be disclosed to the patient or included in the medical record. Repeat testing in a CLIA-approved lab under another protocol would be required before the genetic information could be shared with the patient and family.
Detailed description
The objective of these studies is to identify genetic factors that contribute to the pathogenesis of complex congenital heart disease and other more rare conditions resulting from disturbances in organ positioning. These are a group of medical conditions that are thought to stem from a poorly understood disturbance in the establishment of the basic body plan in the embryo. While the outside of the human body is generally symmetric with mirror image left and right sides, the positions of some internal organs are distinctly asymmetric. For example, the heart could not function properly as a mechanical pump if its connections to major blood vessels retained their initial symmetry. The left ventricle of the heart normally pumps blood to the body, while the right ventricle normally pumps blood to the lungs. Reversals in these blood vessel connections can be fatal. Similarly, the gut characteristically loops in a counterclockwise direction placing the stomach on the left side in most cases. Rare laterality anomalies can occur if this looping is in the other direction, or randomized (equally likely to loop in either direction). Serious medical problems can be caused by disturbances in the establishment, or maintenance of left-right (L-R) differences as key organs are developing in the embryo.
We have established formal collaborative agreements with three major centers who have collected a large number of coded cases of congenital cardiac disease. Our research objective is to try to understand if specific genetic changes can contribute to a range of cardiac malformations. We utilize mutational analysis of candidate genes as our principal tool to study the genetics of L-R axis malformations (e.g. denaturing high performance liquid chromatography, dHPLC, or similar methods). This protocol is also open to other conditions whose basis is also thought to result from L-R problems. In all cases, the patients continue under the care of the referring physician. We anticipate a minor role of NIH researchers and genetic counseling services if subjects either do not have, or cannot afford, similar services in their local area.
This is not a treatment protocol. Our empiric ability to generate medically significant research results is limited by the extensive genetic and other etiologic heterogeneity. Therefore, this research is not a diagnostic study. At this stage of research, we are not sufficiently confident that our research results will have direct medical implications for research subjects.
Results that are of potential medical importance will be discussed with the primary physician who is (in most cases) a trained cardiologist (and/or medical geneticist). We will emphasize that these are only preliminary research findings, that they are not CLIA-approved, and must be disclosed to the patient or included in the medical record. Repeat testing in a CLIA-approved lab under another protocol would be required before the genetic information could be shared with the patient and family.
Study design
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (2 listed)
- This research protocol is open to all participants with a known or suspected diagnosis of L-R axis malformations. Nationality or place of origin are not specific barriers to participation, provided that a blood or tissue sample can be safely sent by international FedEx (to be billed to our account).
- Direct blood relatives (typicially parents, and occasionally affected siblings) of patients with L-R malformations are also eligible to participate.
Key exclusion criteria (3 listed)
- Anyone unwilling to provide informed consent (for themselves as adults, or on behalf of their children as minors) or assent.
- Medical condition(s) are not in themselves reason for exclusion if in the judgment of the referring physician this would involve no more than minimal risk.
- We generally review a brief clinical description from the referring physician about a potential research subject to determine that the subject is appropriate to enter into the study. We reserve the right to exclude cases that are clearly not related to our direct research interests (e.g. patients born with defects in the heart chambers, such as simple atrial or ventricular septal defects, would generally be excluded from this study).
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.
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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 Disease, run by National Human Genome Research Institute (NHGRI) 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 2 inclusion and 3 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 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?
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.