An observational study in Achondroplasia and Dwarfism, sponsored by National Human Genome Research Institute (NHGRI). Completed at 1 site in United States. Per ClinicalTrials.gov, last updated 2008-03-04.
Sponsored by National Human Genome Research Institute (NHGRI) · Observational
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.
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.
47 studies on the registry are indexed under Achondroplasia; 14 are open to participants now.
This study's enrollment of 2,000 is above the median of 200 across 19 observational studies indexed under Achondroplasia.
Browse Achondroplasia studies →National Human Genome Research Institute (NHGRI) is the lead sponsor of 199 studies on the registry; 32 are open to participants now.
Counted across the registry records on this site, refreshed daily.
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.
This study is completed, as verified in Aug 1999. You cannot join it, but the record below documents what was studied.
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National Human Genome Research Institute (NHGRI)