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| Descriptive Information Fields | |
| Brief Title † | Issues Surrounding Prenatal Genetic Testing for Achondroplasia |
| Official Title † | Issues Surrounding Prenatal Genetic Testing for Achondroplasia |
| 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 U.S. 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 U.S. 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 Phase | |
| Study Type † | Observational |
| Study Design † | |
| Primary Outcome Measure † | |
| Secondary Outcome Measure † | |
| Condition † | Achondroplasia Dwarfism |
| Intervention † | |
| MEDLINE PMIDs | 7968151, 7847369, 6881210 |
| Links | |
| Recruitment Information Fields | |
| Recruitment Status † | Completed |
| Enrollment † | 2000 |
| Start Date † | August 1996 |
| Completion Date | July 2000 |
| Eligibility Criteria † | Adult individuals of either gender with achondroplasia and their first degree relatives (both short and average statured) of all ethnic and cultural backgrounds. No short-statured persons with conditions other than achondroplasia. No average-statured family members of short statured persons with conditions other than achondroplasia. No minors less than 18 years of age. |
| Gender | Both |
| Ages | |
| Accepts Healthy Volunteers | No |
| Contacts †† | |
| Location Countries † | United States |
| Administrative Information Fields | |
| NCT ID † | NCT00001536 |
| Organization ID | 960123 |
| Secondary IDs †† | 96-HG-0123 |
| Study Sponsor † | National Human Genome Research Institute (NHGRI) |
| Collaborators †† | |
| Investigators † | |
| Information Provided By | National Institutes of Health Clinical Center (CC) |
| Verification Date | August 1999 |
| First Received Date † | November 3, 1999 |
| Last Updated Date | March 3, 2008 |
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