Ignite Creation Date:
2024-05-05 @ 4:56 PM
Last Modification Date:
2024-10-26 @ 9:25 AM
Study NCT ID:
NCT00341068
Status:
TERMINATED
Last Update Posted:
2019-12-05
First Post:
2006-06-19
Brief Title:
Genetic Analysis of Neural Tube and Orofacial Cleft Defects in the Irish Population
Sponsor:
National Human Genome Research Institute NHGRI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Genetic Analysis of Neural Tube and Orofacial Cleft Defects in the Irish Population
Status:
TERMINATED
Status Verified Date:
2019-12-02
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:
In a collaborative effort with the Health Research Board the national organization for medical research in the Republic of Ireland individuals with neural tube defects NTDs or facial cleft defects and their parents will be studied With the exception of a few well-described syndromes most cases of NTDs and facial clefts are not inherited in a Mendelian fashion Nearly all incident cases occur in families with no prior history of the defects The observed recurrence risk in families with an NTD child is 10-12 fold higher than the general population suggesting that inherited factors modify this risk Historically the incidence of NTDs in Ireland was 5-8 fold higher than the USA The aim of this study is to identify the genes involved in these defects using standard genetic epidemiology approaches transmission disequilibrium testing and gene mapping strategies We will initially evaluate genes known to be involved in folate metabolism and pattern formation development of the body The major outcomes measured will be aggregate allele frequencies in case groups compared to controls Biochemical parameters in red cells and plasma will also be measured Comparisons will be made between the presence of genetics variants biochemical parameters and clinical phenotype Characterizing the genes associated with these defects should provide insight into the etiology and metabolic processes that may be involved furthering prevention and intervention efforts
Detailed Description:
In a collaborative effort with the Health Research Board the national organization for medical research in the Republic of Ireland individuals with neural tube defects NTDs or facial cleft defects and their parents will be studied With the exception of a few well-described syndromes most cases of NTDs and facial clefts are not inherited in a Mendelian fashion Nearly all incident cases occur in families with no prior history of the defects However the observed recurrence risk in families with an NTD child is 10-20 fold higher than the general population incidence suggesting that inherited factors modify this risk Historically the incidence of NTDs in Ireland was 5-8 fold higher than the USA The aim of this study is to identify the genes involved in these defects using standard genetic epidemiology approaches transmission disequilibrium testing and gene mapping strategies We will initially evaluate genes known to be involved in folate metabolism and pattern formation development of the body The major outcomes measured will be aggregate allele frequencies in case groups compared to controls Biochemical parameters in red blood cells and plasma will also be measured Comparisons will be made between the presence of genetics variants biochemical parameters and clinical phenotype Characterizing the genes associated with these defects should provide insight into the etiology and metabolic processes that may be involved furthering prevention and intervention efforts
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-N053 | None | None | None |