Issues Surrounding Prenatal Genetic Testing for Achondroplasia

• ClinicalTrials.gov Identifier: NCT00001536
• Recruitment Status: Completed
• First Posted: December 10, 2002
• Last Update Posted: March 4, 2008
• Sponsor: National Human Genome Research Institute (NHGRI)
• Information provided by: National Institutes of Health Clinical Center (CC)

Study Description

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

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 Design

• 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

Groups and Cohorts

Outcome Measures

Eligibility Criteria

• Ages Eligible for Study: Child, Adult, Older Adult
• 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.

Contacts and Locations

Locations

United States, Maryland

National Human Genome Research Institute (NHGRI)

Bethesda, Maryland, United States, 20892

Sponsors and Collaborators

National Human Genome Research Institute (NHGRI)

More Information

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.

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.

• ClinicalTrials.gov Identifier: NCT00001536
• Other Study ID Numbers: 960123; 96-HG-0123
• First Posted: December 10, 2002
• Last Update Posted: March 4, 2008
• Last Verified: August 1999

Keywords provided by National Institutes of Health Clinical Center (CC):

Disability; Dwarfism; Ethics in Genetic Counseling; Quality of Life; Reproductive Issues; Support Groups; Achondroplasia

Additional relevant MeSH terms:

Achondroplasia; Dwarfism; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Osteochondrodysplasias; Genetic Diseases, Inborn; Endocrine System Diseases