Ignite Creation Date:
2024-05-05 @ 11:22 AM
Last Modification Date:
2024-10-26 @ 9:02 AM
Study NCT ID:
NCT00001536
Status:
COMPLETED
Last Update Posted:
2008-03-04
First Post:
1999-11-03
Brief Title:
Issues Surrounding Prenatal Genetic Testing for Achondroplasia
Sponsor:
National Human Genome Research Institute NHGRI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Issues Surrounding Prenatal Genetic Testing for Achondroplasia
Status:
COMPLETED
Status Verified Date:
1999-08
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:
Since the gene responsible for achondroplasia was identified in 1994 it has become possible to test for achondroplasia prenatally Moreover prenatal genetic testing for achondroplasia is relatively simple and is highly likely to be informative for any couple seeking testing Four diagnostic laboratories in the US are currently performing prenatal genetic testing for achondroplasia Before prenatal genetic testing for achondroplasia becomes more widely available however it is essential that we learn more about the lives of affected individuals and their families the implications of offering testing for achondroplasia and the education and the counseling needs of this community Personal interviews and stories have been published and discussed at national meetings Ablon 1984 We conducted a pilot telephone interview survey of 15 individuals with achondroplasia What is needed now is a large scale quantitative study of the community of little people and their families To meet this need we have developed a survey tool to analyze family relationships quality of life tendencies toward optimism or pessimism information-avoiding or information-seeking behaviors social support involvement in Little People of America Inc LPA self-esteem sociodemographics and views on achondroplasia religiousness reproductive and family plans genetic testing and abortion The self-administered survey will be completed nationally by a sample of persons with achondroplasia and their family members
Detailed Description:
Since the gene responsible for achondroplasia was identified in 1994 it has become possible to test for achondroplasia prenatally Moreover prenatal genetic testing for achondroplasia is relatively simple and is highly likely to be informative for any couple seeking testing Four diagnostic laboratories in the US are currently performing prenatal genetic testing for achondroplasia Before prenatal genetic testing for achondroplasia becomes more widely available however it is essential that we learn more about the lives of affected individuals and their families the implications of offering testing for achondroplasia and the education and the counseling needs of this community Personal interviews and stories have been published and discussed at national meetings Ablon 1984 We conducted a pilot telephone interview survey of 15 individuals with achondroplasia What is needed now is a large scale quantitative study of the community of little people and their families To meet this need we have developed a survey tool to analyze family relationships quality of life tendencies toward optimism or pessimism information-avoiding or information-seeking behaviors social support involvement in Little People of America Inc LPA self-esteem sociodemographics and views on achondroplasia religiousness reproductive and family plans genetic testing and abortion The self-administered survey will be completed nationally by a sample of persons with achondroplasia and their family members
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 |
|---|---|---|---|
| 96-HG-0123 | None | None | None |