Clinical Trials Logo

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.


Clinical Trial 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

N/A


Related Conditions & MeSH terms


NCT number NCT00001536
Study type Observational
Source National Institutes of Health Clinical Center (CC)
Contact
Status Completed
Phase N/A
Start date August 1996
Completion date July 2000

See also
  Status Clinical Trial Phase
Recruiting NCT05353192 - A Study to Evaluate the Efficacy and Safety of Recombinant Human Growth Hormone in Children With Achondroplasia Phase 4
Recruiting NCT05328050 - Registry for Patients With Achondroplasia / Hypochondroplasia (OMPR-Ach/Hy)
Completed NCT05659719 - A Study to Learn About Recifercept in Patients With Achondroplasia
Active, not recruiting NCT04554940 - A Clinical Trial to Evaluate Safety of Vosoritide in At-risk Infants With Achondroplasia Phase 2
Completed NCT01435629 - A Survey Collecting Data on Adult Height in Patients With Achondroplasia Treated With Somatropin N/A
Enrolling by invitation NCT06164951 - A Study to Evaluate the Efficacy and Safety of Infigratinib in Children and Adolescents With Achondroplasia Phase 3
Completed NCT01516229 - Special Survey for Long Term Application N/A
Completed NCT03872531 - Lifetime Impact Study for Achondroplasia
Active, not recruiting NCT05598320 - A Clinical Trial to Evaluate Efficacy and Safety of TransCon CNP Compared With Placebo in Children With Achondroplasia Phase 2/Phase 3
Terminated NCT05813314 - Bioequivalence Study to Compare Two Injection Devices for BMN 111 in Healthy Participants Phase 1
Recruiting NCT04265651 - Study of Infigratinib in Children With Achondroplasia Phase 2
Recruiting NCT05603936 - Adaption and Testing of the Quality of Life in Short Stature Youth (QoLISSY) Questionnaire for Parents With Children From 0-4
Completed NCT03780153 - The Norwegian Adult Achondroplasia Study
Active, not recruiting NCT04085523 - A Dose Escalation Trial Evaluating Safety, Efficacy, and Pharmacokinetics of TransCon CNP Administered Once Weekly in Prepubertal Children With Achondroplasia Phase 2
Enrolling by invitation NCT05929807 - A Clinical Trial to Investigate Long-term Safety, Tolerability, and Efficacy of Weekly Subcutaneous Doses With TransCon CNP in Children and Adolescents With Achondroplasia Phase 2/Phase 3
Not yet recruiting NCT06433557 - A Phase 2 Clinical Trial to Evaluate Efficacy, Safety, and Tolerability of Navepegritide in Combination With Lonapegsomatropin in Children With Achondroplasia Phase 2
Completed NCT03875534 - A Multi-center, Longitudinal, Observational Study of Children With Achondroplasia
Terminated NCT03794609 - Observational Study Investigating Clinical & Anthropometric Characteristics of Children With Achondroplasia.
Completed NCT03583697 - A Clinical Trial to Evaluate the Safety and Efficacy of BMN 111 in Infants and Young Children With Achondroplasia Phase 2
Active, not recruiting NCT03989947 - An Extension Study to Evaluate Safety and Efficacy of BMN 111 in Children With Achondroplasia Phase 2