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Clinical Trial Details — Status: Completed

Administrative data

NCT number NCT00001536
Other study ID # 960123
Secondary ID 96-HG-0123
Status Completed
Phase N/A
First received November 3, 1999
Last updated March 3, 2008
Start date August 1996
Est. completion date July 2000

Study information

Verified date August 1999
Source National Institutes of Health Clinical Center (CC)
Contact n/a
Is FDA regulated No
Health authority United States: Federal Government
Study type Observational

Clinical Trial 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.


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.


Recruitment information / eligibility

Status Completed
Enrollment 2000
Est. completion date July 2000
Est. primary completion date
Accepts healthy volunteers No
Gender Both
Age group N/A and older
Eligibility 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 Design

N/A


Related Conditions & MeSH terms


Locations

Country Name City State
United States National Human Genome Research Institute (NHGRI) Bethesda Maryland

Sponsors (1)

Lead Sponsor Collaborator
National Human Genome Research Institute (NHGRI)

Country where clinical trial is conducted

United States, 

References & Publications (3)

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. — View Citation

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. — View Citation

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. — View Citation

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