Issues Surrounding Prenatal Genetic Testing for Achondroplasia
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| ClinicalTrials.gov Identifier: NCT00001536 |
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Recruitment Status
:
Completed
First Posted
: December 10, 2002
Last Update Posted
: March 4, 2008
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Sponsor:
National Human Genome Research Institute (NHGRI)
Information provided by:
National Institutes of Health Clinical Center (CC)
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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.
| Condition or disease |
|---|
| Achondroplasia Dwarfism |
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 Type : | Observational |
| Enrollment : | 2000 participants |
| Official Title: | Issues Surrounding Prenatal Genetic Testing for Achondroplasia |
| Study Start Date : | August 1996 |
| Study Completion Date : | July 2000 |
Resource links provided by the National Library of Medicine
MedlinePlus related topics:
Genetic Testing
Genetic and Rare Diseases Information Center resources:
Achondroplasia
Mucopolysaccharidosis Type IV
U.S. FDA Resources
Information from the National Library of Medicine
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| Ages Eligible for Study: | Child, Adult, Senior |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | No |
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.
Information from the National Library of Medicine
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00001536
Locations
| United States, Maryland | |
| National Human Genome Research Institute (NHGRI) | |
| Bethesda, Maryland, United States, 20892 | |
Sponsors and Collaborators
National Human Genome Research Institute (NHGRI)
Publications:
| ClinicalTrials.gov Identifier: | NCT00001536 History of Changes |
| Other Study ID Numbers: |
960123 96-HG-0123 |
| First Posted: | December 10, 2002 Key Record Dates |
| Last Update Posted: | March 4, 2008 |
| Last Verified: | August 1999 |
Keywords provided by National Institutes of Health Clinical Center (CC):
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Disability Dwarfism Ethics in Genetic Counseling Quality of Life |
Reproductive Issues Support Groups Achondroplasia |
Additional relevant MeSH terms:
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Dwarfism Achondroplasia Bone Diseases, Developmental Bone Diseases |
Musculoskeletal Diseases Genetic Diseases, Inborn Endocrine System Diseases Osteochondrodysplasias |