A program of Developmental Pediatrics, University of Colorado School of Medicine located at Children's Hospital Colorado and led by Nicole Tartaglia, MD.
Since 2007, the eXtraordinarY Kids Clinic team has been conducting clinical research in X&Y chromosome variations in order to learn more about the medical problems, developmental milestones, learning, language, motor skills, behavior, and emotions in a wide age range of individuals with X&Y chromosome variations.
Through research, we hope to better understand the strengths and weaknesses for individuals with X&Y chromosome variations, as well as how genes on the X&Y chromosomes may influence these different areas. There is limited research on these conditions currently. Research is important because it helps guide clinical care and hopefully improve quality of life for individuals living with X&Y chromosome variations.
Social Media: www.facebook.com/eXtraordinarYKids.org/
Current Research Opportunities
Children age 6 weeks to 12 months old, who have a prenatal diagnosis of XXY, XYY, XXX, XXYY, and other sex chromosome variations are eligible.
(COMIRB# 17-0118, PI Dr. Nicole Tartaglia; funded by NIH/NICHD; ClinicalTrials.gov Identifier: NCT03396562)
INSIGHTS Registry: Inspiring New Science in Guiding Healthcare in Turner syndrome
Purpose of the study: INSIGHTS is a registry study that collects key information on medical history for girls and women with Turner syndrome and the clinical care they receive. This includes genetic tests, imaging, medications, and more for hundreds of patients seen at a number of clinics across the US. In addition to learning a lot about the current state of health for individuals with TS, INSIGHTS serves as an infrastructure to conduct future studies that are meaningful to patients and their families.
What’s Involved: Patients who enroll in the INSIGHTS registry give permission to use their medical records for research purposes. They can also choose to be included on the recruitment list for future studies, participate in some surveys about themselves, and allow researchers to save their blood to use for future research. This information gets stored in a secure database. De-identified information can then be given to researchers approved by the Steering Committee. The Steering Committee will only approve proposals that will provide meaningful knowledge to the TS community.
To learn more about this study, contact 720-777-0705 or email firstname.lastname@example.org.
(COMIRB# 19-3027, PI Dr. Shanlee Davis; funded by TSGA)
Anxiety in Turner syndrome: Engaging families and youth to address barriers and facilitators to diagnosis and care -- Phase II: Surveys and Interviews
Purpose of the study: This study plans to learn more about what anxiety looks like in Turner syndrome across the lifespan. We want to learn about the life experience of girls with Turner syndrome and anxiety to help develop a screening tool to better detect anxiety in Turner syndrome patients.
What’s Involved: There is a one-time online survey asking about your experience with anxiety symptoms, triggers, and coping mechanism. Optionally, you can also meet with a member of our team for a one-on-one interview. To be eligible for the study, you must be either a parent/caregiver of a girl with TS who is at least 3 years old or an individual who is at least 10 years old. Anyone under 18 who wants to do the survey needs to have a parent/guardian consent for them.
To learn more about this study, contact 720-777-0705 or email email@example.com.
(COMIRB# 22-0550, PI Dr. Talia Thompson; funded by the CCTSI)
GALAXY Registry: Generating Advancements in Longitudinal Analysis in X & Y Chromosome Variations
Purpose of the study: The purpose of the GALAXY Registry is to collect and store this information for individuals with X&Y variations. Since genetic differences like X&Y variations are rare, we need to get information from as many individuals as possible to draw the right conclusions. The GALAXY Steering Committee made up of doctors, researchers, and community advocates helps direct specific goals and how the data in the Registry can be used. Our overall goal is to be able to improve health outcomes in individuals with X&Y variations and the care they receive.
What’s Involved: If you join the study, you are allowing us to use information in your medical records for research. Additionally, you can complete questionnaires or join a recruitment list for future research but you can join the registry without doing those as well.
To learn more about this study, contact 720-777-0705 or email firstname.lastname@example.org.
(COMIRB# 20-0482, PI Dr. Shanlee Davis; funded in part by AXYS)
You can also enroll yourself/your child in the registry online without coming into the clinic, click here for the eligibility and consent information.