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: Exploring the Transition From Pediatric to Adult Care in Patients with Klinefelter Syndrome
X and Y variations being studied: Klinefelter syndrome (47,XXY)
Genders being studied: No restrictions based upon gender
Age Range: 14-26 years
Other eligibility requirements: Diagnosis of 47,XXY/Klinefelter syndrome. Participants must be able to speak English.
Travel required: No. Study involves an online survey and an optional post-survey interview, also conducted remotely.
Sponsoring Institution: University of Colorado
Principal Investigator(s): Susan Howell, MBA, MS, CGC
Name/Purpose of Study: The ASSERT: All StakeholderS Engaged in Research Together project seeks to engage people on the autism spectrum, with Down syndrome, or with other intellectual or developmental disabilities (IDD) along with caregivers, clinicians, and researchers. The goal is to build an online learning community where these stakeholders learn about research together in a way that is collaborative and multidirectional (all learners gain knowledge from each other).
X and Y variations being studied: All
Genders being studied: All
Age Range: 18+
Other eligibility requirements: People ages 18 or older on the autism spectrum, with Down syndrome, or with IDD; caregivers (including adult siblings) of a person on the autism spectrum, with Down syndrome, or with IDD; clinicians who care for those on the autism spectrum, with Down syndrome, or with IDD; and researchers engaged in research focused on the autism spectrum, Down syndrome, or IDD. Must have internet access and a web-capable device.
Name of Study: The eXtraordinarY Babies Study: Researching the Natural History of Health and Neurodevelopment in Infants and Young Children with Sex Chromosome Trisomy
X and Y variations being studied: All variations
Genders being studied: All
Age Range: 6 weeks to 6 years, 2 months old at the time of enrollment
Other eligibility requirements: Children must have a prenatal diagnosis of XXY, XYY, XXX, XXYY, or other sex chromosome variations
Travel required: Yes. Study sites include Colorado, Delaware or Philadelphia. Travel budget included if needed. There are 4-8 total study visits over 2-4 years (depending on age at enrollment). Visits alternate between in-person and telehealth.
Sponsoring Institution: University of Colorado Denver,Nemours/Alfred I. DuPont Hospital for Children
Principal Investigator(s): Dr. Nicole Tartaglia; Co-Investigator: Dr. Judith Ross
The goal of this research project is to understand the experiences and attitudes of individuals with X & Y chromosome variations and their perspectives on routine prenatal screening for these variations. Perspectives of those living with X & Y chromosome variations are often missing from messages and educational materials provided to families undergoing or receiving results of prenatal screening. The results of this project will be used to inform healthcare providers how to best communicate about X & Y chromosome variations with their patients and to improve educational materials.
As prenatal screening for genetic disorders advances, more laboratories are reporting about X & Y chromosome variations. Perspectives are necessary to ensure that these results are delivered in a neutral, ethical manner that is best for patients, providers, and society. People living with X & Y chromosome variations have a range of experiences and also have experienced many misconceptions around their variations. Gathering experiences and perspectives of individuals living with these variations will help inform medical providers about how to better communicate these results. A long-term goal is that this data be used to shape the educational materials and recommendations around reporting prenatal screening results for X & Y chromosome variations.
Participation in this research will involve a) taking a brief online survey of demographic information and b) participating in an interview by telephone or Zoom. This interview will focus on themes such as the important aspects of living with an X or Y chromosome variation, what should be highlighted when communicating with patients, the inclusion of X & Y chromosome variations in prenatal screening programs, and experiences with medical providers. Participants will also be asked to take a look at an educational instrument about X & Y chromosome variations and provide their feedback. Interviews are expected to last 45 min. to 1 hr. Participants can enter their name into a raffle to win a $50 amazon gift card. We will be raffling off two gift cards.