Issues Surrounding Prenatal Genetic Testing for Achondroplasia
Launched by NATIONAL HUMAN GENOME RESEARCH INSTITUTE (NHGRI) · Dec 9, 2002
Trial Information
Current as of May 09, 2025
Completed
Keywords
ClinConnect 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 of...
Gender
ALL
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.
About National Human Genome Research Institute (Nhgri)
The National Human Genome Research Institute (NHGRI) is a prominent research organization within the National Institutes of Health (NIH) dedicated to advancing the field of genomics and its applications in health and medicine. NHGRI sponsors and conducts a wide range of clinical trials aimed at understanding the genetic basis of diseases, developing innovative genomic technologies, and translating genomic research into clinical practice. With a commitment to ethical research and collaboration, NHGRI plays a pivotal role in shaping the future of personalized medicine and improving patient outcomes through genomic discoveries.
Contacts
Jennifer Cobb
Immunology at National Institute of Allergy and Infectious Diseases (NIAID)
Locations
Bethesda, Maryland, United States
Patients applied
Timeline
First submit
Trial launched
Trial updated
Estimated completion
Not reported
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