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The eXtraordinarY Kids Research Program

Welcome to our Research Program!

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.  

Currently enrolling studies

GALAXY Registry

Purpose of the study: The purpose of the Generating Advancements in Longitudinal Analysis in X & Y Chromosome Variations (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 galaxy@ucdenver.edu.

(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, . 

INSIGHTS Registry

Purpose of the study: Inspiring New Science in Guiding Healthcare in Turner syndrome (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 insights@ucdenver.edu.

(COMIRB# 19-3027, ; PI Dr. Shanlee Davis; funded by TSGA)

You can also enroll yourself/your child in the registry online without coming into clinic, .

Studies no longer enrolling

eXtraordinarY Babies Study

The eXtraordinarY Babies Study is ongoing, but enrollment has now ended. The study is designed to research the natural history of neurodevelopment, health and early hormonal function in infants with XXY/Klinefelter syndrome, XYY, XXX and other sex chromosome variations to identify early predictors of developmental and health outcomes. We will also evaluate different developmental screening tools in infants with sex chromosome variations so we can develop recommendations for pediatrician caring for infants and young children with sex chromosome variations. Participants come into our clinic about annually for multiple years and complete developmental assessments, physical exams, blood draws, body composition scans, and other surveys. This was approved by COMIRB #17-0118 and is funded by NIH/NICHD.

Lipids To Energy (LTE)

The LTE study, Interrogating Fatty Acid Metabolism Impairment and Clinical Correlates in Males with Klinefelter Syndrome, researched how fat is used as a source of energy in males with 47,XXY compared to males with 46,XY. Participants had 3 study visits over a few months. They had a physical exam, a body scan, a blood draw, an exercise test, and a muscle biopsy during these visits. They also wore an activity monitor for a week. Participants with 47,XXY took fenofibrate for one month and then repeated the measures again. This study was approved by COMIRB #21-2860 and funded by NIH/NIDDK.

The TESTO Research Study

The Testosterone Effects on Short Term Outcomes in XXY (TESTO) study’s purpose was to learn more about the effects of testosterone shots on body fat and development in infants with XXY / Klinefelter syndrome. Participants came into our clinic 3 times over a 6-month period, where the babies had a developmental evaluation, body fat measurement, blood draw, and physical exam. All participants received testosterone injects over the course of the study. This was approved by COMIRB #17-1317 and was funded by NIH/NICHD.

Growing up with X and Y Trisomy: The TriXY Study

The purpose of this study was to better understand the early neuropsychological and social development of children with XXY, XYY and XXX. Development can vary in children with an extra X or Y chromosome. It is therefore important to identify children with developmental differences so that appropriate interventions and supports can be provided as soon as possible.  With the knowledge gained from this study, we hope to understand risk and protective factors which will then allow us to provide better care for infants with a diagnosis of XXY, XXX or XYY. Participants were 1 to 5 years old and had 2 visits each, 1 year apart. At each visit, they completed developmental and behavioral assessments. This was approved by COMIRB #17-1710 and was funded by Leiden University.

The Effects of Testosterone Therapy in Young Adolescents with Klinefelter Syndrome

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 placebo. This was approved by COMIRB #11-0874 and was funded by NIH/NINDS.

Anxiety in Turner syndrome

This study learned about the lived experience of patients with Turner syndrome and anxiety to help us have a better idea of what symptoms, triggers, and solutions for anxiety are in individuals with Turner syndrome. Participants completed an online survey asking about their experience with anxiety. Some of the participants also completed an interview to go more in-depth about their answers. This was approved by COMIRB #22-0550 and was funded by the CCTSI.

Recognizing Anxiety in Turner syndrome Early (RATE)

The purpose of this study was to develop and validate a screening tool for anxiety in patients with Turner syndrome. First, participants completed interviews to help us develop the screening tool. We then had other participants completed the new screener and other surveys online to help us validate it. Some of the participants also completed an interview with a psychologist after doing the surveys. This was approved by COMIRB #23-1584 and was funded by the Ludeman Center.

Fertility COUNTS

This was a needs assessment to support development of a tool to optimize fertility and reproductive health related communication in patients with Turner Syndrome. The goal of the study was to learn how to improve fertility and reproductive health counseling for individuals with Turner Syndrome and their families, because individuals with Turner Syndrome have unique health considerations related to fertility and reproductive health. Participants completed an interview via Zoom. This was approved by COMIRB #21-3990 and conducted by a pediatric endocrinology fellow.

Transition from pediatric to adult care in KS

The goal of this study was to better understand what it’s like for patients with Klinefelter syndrome (KS) to transition from a pediatric doctor to an adult doctor. Teenager and young adults going through this process completed a survey about their current progress of transitioning to adult care and their lived experience. Some participants also did an interview. This study was approved by COMIRB #23-1456.