Ignite Creation Date:
2024-05-05 @ 4:54 PM
Last Modification Date:
2024-10-26 @ 9:25 AM
Study NCT ID:
NCT00341133
Status:
COMPLETED
Last Update Posted:
2017-07-02
First Post:
2006-06-19
Brief Title:
Genetic Analysis of Left-Right Axis Formations
Sponsor:
National Human Genome Research Institute NHGRI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Genetic Analysis of Left-Right Axis Malformations
Status:
COMPLETED
Status Verified Date:
2009-08-04
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief 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 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 andor 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
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 andor 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 eg 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 andor 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
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 eg 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 andor 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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| OH99-HG-N054 | None | None | None |