Since 2007, our 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.
Summer 2022 Newsletter
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 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)
Purpose of the study: The goal of this study to to learn how to improve fertility and reproductive health counseling for individuals with Turner Syndrome and their families. Individuals with Turner Syndrome have unique health considerations related to fertility and reproductive health. Help your doctors improve how to talk about these aspects of health.
What’s Involved: There is a one-time online survey and a 30-60 minute zoom interview. You will be compensated for your participation
To learn more about this study, contact Dr. Victoria Elliott at firstname.lastname@example.org or scan the QR code below:
(COMIRB# 21-3990, ; PI Dr. Victoria Elliott)
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 email@example.com.
(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 clinic, click here for the eligibility and consent information.
Lipids To Energy (LTE): Interrogating Fatty Acid Metabolism Impairment and Clinical Correlates in Males with Klinefelter Syndrome
Purpose of the study: This research study is being done to learn more about how fat is used as a source of energy in males with 47,XXY / Klinefelter syndrome (KS) compared to typical males.
Are you able to participate? We are looking for males with or without Klinefelter syndrome who are 15-30 years of age. Compensation is provided.
To learn more about this study, contact the study team at firstname.lastname@example.org or call the study coordinator at 720-777-6774.
(COMIRB# 21-2860, ; PI Dr. Shanlee Davis)
This research study will learn more about the effects of testosterone shots on body fat and development in infants with XXY / Klinefelter syndrome.
This study is 6 months long and includes 3 in-person visits at the Children’s Hospital Colorado. At the visits your baby will have a:
All infants in the study will receive testosterone shots.
If you have an infant with XXY less than 3 months old and are interested in learning more about this study, contact us at TESTO@UCDenver.edu or 720-777-6774.
(COMIRB# 17-1317; PI Dr. Shanlee Davis; funded by NIH/NICHD; ClinicalTrials.gov Identifier: NCT03325647)
Contact email@example.com or 720-722-1515
(COMIRB# 17-1710; Enrollment Period October 2017-June 2019; PI Dr. Nicole Tartaglia; funded by Leiden University, Netherlands awarded to Dr. Sophie van Rijn)
(COMIRB# 11-0874; PI Dr. Nicole Tartaglia; April 2012-October 2017; funded by NIH/NINDS)
This study investigated the effects of testosterone therapy on behavior, mood, problem solving, attention span and motor skills in adolescent males with Klinefelter syndrome in early puberty. During this period in early puberty, there is much variability in how and when doctors start testosterone therapy. This study evaluated if there are benefits to starting testosterone therapy in early puberty.
Participants with Klinefelter syndrome in early puberty (around ages 10 to 15) were treated with either testosterone gel or a place