- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT00001536
Issues Surrounding Prenatal Genetic Testing for Achondroplasia
March 3, 2008 updated by: National Human Genome Research Institute (NHGRI)
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 Overview
Status
Completed
Conditions
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 Type
Observational
Enrollment
2000
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Locations
-
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Maryland
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Bethesda, Maryland, United States, 20892
- National Human Genome Research Institute (NHGRI)
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Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
No
Genders Eligible for Study
All
Description
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.
Study Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Publications and helpful links
The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.
General Publications
- Bellus GA, Escallon CS, Ortiz de Luna R, Shumway JB, Blakemore KJ, McIntosh I, Francomano CA. First-trimester prenatal diagnosis in couple at risk for homozygous achondroplasia. Lancet. 1994 Nov 26;344(8935):1511-2. doi: 10.1016/s0140-6736(94)90332-8. No abstract available.
- Bellus GA, Hefferon TW, Ortiz de Luna RI, Hecht JT, Horton WA, Machado M, Kaitila I, McIntosh I, Francomano CA. Achondroplasia is defined by recurrent G380R mutations of FGFR3. Am J Hum Genet. 1995 Feb;56(2):368-73.
- Elejalde BR, de Elejalde MM, Hamilton PR, Lombardi JM. Prenatal diagnosis in two pregnancies of an achondroplastic woman. Am J Med Genet. 1983 Jul;15(3):437-9. doi: 10.1002/ajmg.1320150308.
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
Study Major Dates
Study Start
August 1, 1996
Study Completion
July 1, 2000
Study Registration Dates
First Submitted
November 3, 1999
First Submitted That Met QC Criteria
December 9, 2002
First Posted (Estimate)
December 10, 2002
Study Record Updates
Last Update Posted (Estimate)
March 4, 2008
Last Update Submitted That Met QC Criteria
March 3, 2008
Last Verified
August 1, 1999
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
Other Study ID Numbers
- 960123
- 96-HG-0123
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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