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Issues Surrounding Prenatal Genetic Testing for Achondroplasia

This study has been completed.
Study NCT00001536.   Last updated on March 3, 2008.   Information provided by National Institutes of Health Clinical Center (CC)

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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

 †    Required WHO trial registration data element.
††   WHO trial registration data element that is required only if it exists.




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