Research Opportunities for FamiliesRick Frith2021-04-22T14:36:00-04:00
As a service to the X and Y variation community, AXYS is pleased to provide the following list of studies that individuals, parents or families may want to consider joining. All listed studies have been approved by their respective Institutional Review Boards (IRB), and a copy of that approval is on file with AXYS. The announcements and parties conducting and sponsoring the research meet guidelines established by AXYS regarding relevancy and appropriateness to X and Y variations. AXYS takes no position and makes no claims as to the potential benefits of the studies, including those studies involving medications, and cannot be responsible for any outcomes, lack of outcomes or unintended side effects. If interested in participating in this research, please use the contact information in the announcement.
Name/Purpose of Study: The Relationship Between Anxiety and Quality of Life in Trisomy X
X and Y variations being studied: Trisomy X
Genders being studied: Female
Age Range: 18-30 years
Other eligibility requirements: Diagnosis of non-mosaic Trisomy X. Participants must have access to a computer or smart phone/tablet, an internet connection, and be able to speak English.
Travel required: No. Study involves participation in online/virtual focus group.
Sponsoring Institution: Emory University, Nell Hodgson Woodruff School of Nursing
Principal Investigator(s): Amy A. Blumling, PhD, CPNP-PC
Name/Purpose of Study: Adolescence: A Patient Population With a Need to be Understood. The retrospective study explores the resources and genetic counseling offered by clinics and programs to adult patients in their adolescence. We hope to learn about how, and if, the resources and genetic counseling offered in adolescence addressed their needs as adolescent patients with a genetic condition and how we can improve current resources for adolescents today.
X and Y variations being studied: All
Age Range: 18 years and older
Other eligibility requirements: Diagnosed between early childhood and adolescence with a genetic condition. Must be able to complete survey independently.
Travel required: No, survey may be completed through any device
Sponsoring Institution: Bay Path University, Masters of Genetic Counselling Program
Principal Investigator(s): Veronica Cadavid, Dr. Susan Capasso, MS. EdD LCGC (faculty advisor), and Dr. Jennifer Duffy, PhD (faculty advisor)
Name of Study: The Clinical Study of Patients with Sex Chromosome Variants
X and Y variations being studied: All sex chromosome variants, such as, but not limited to Klinefelter syndrome, 47,XYY, and 47,XXX
Genders being studied: Males and Females
Age Range: Adults (18+)
Other eligibility requirements:
Travel required: Yes. Participants will travel to the NIH Clinical Center in Bethesda, MD (near Washington, DC) for 5 days at no personal cost. One companion may travel with the participant. Travel costs, lodging, and a stipend will be provided.
Sponsoring Institution: National Human Genome Research Institute of the National Institutes of Health (NIH)
Principal Investigator(s):Ashley J Buscetta, CRNP, National Human Genome Research Institute (NHGRI)
Primary funding source(s): National Institutes of Health
Primary Contact: To participate please contact the NIH Office of Patient Recruitment at 1-800-411-1222 and refer to study 12-HG-0181. Questions? Email Ashley J Buscetta, CRNP, firstname.lastname@example.org or call 301-496-3033.