The eXtraordinarY Kids Research Program


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.  

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. 

eXtraordinarY Kids Research Newsletters 

Current Research Opportunities

We are actively conducting the research studies below.  If you are interested in learning more about a specific study, please contact us!
 
babies-study 
eXtraordinarY Babies Study: Researching the Natural History of Health and Neurodevelopment in Infants and Young Children with Sex Chromosome Trisomy
 
Purpose of the study:
This 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 in an effort 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 XXY/Klinefelter syndrome, XYY, XXX, and other sex chromosome variations.
 
What’s Involved:

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.

  • 4-8 study visits over 2-4 years, depending on age and timing of enrollment
 
Assessments will include:
  • Measures of skills in different areas of development including problem solving, language, social, motor, and life skills.
  • Physical exam
  • Blood, urine, and stool testing for hormone levels, metabolic functioning and DNA banking.
  • Scans for body composition (muscle and fat mass, bone density)
  • Quality of life outcomes
  • Questionnaires & surveys to be completed by parents or caregivers
 
Study sites include Colorado or Delaware. Travel budget included if needed.
PI: Nicole Tartaglia, MD (Colorado) and Co-Investigator: Judith Ross, MD (Delaware)
 
To learn more about this study, email extraordinarykids@ucdenver.edu.

(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 logo and TSGA - Turner syndrome global alliance logo 

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 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, click here for the eligibility and consent information.


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 alexandra.carl@cuanschutz.edu.
(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 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, click here for the eligibility and consent information.
 

Previous Studies (No Longer Enrolling)

testo 
The TESTO Research Study
Testosterone Effects on Short Term Outcomes in XXY

Purpose of the Research Study:

This research study will learn more about the effects of testosterone shots on body fat and development in infants with XXY / Klinefelter syndrome.

What’s Involved:

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:

  • developmental evaluation
  • body fat measurement in a special scale
  • a blood draw, urine and stool collection
  • physical examination

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)         

 


 

trixy 
Growing up with X and Y Trisomy: The TriXY Study
Development can vary in children with an extra X or Y chromosome. It is therefore important to identify children with develop-mental differences so that appropriate interventions and supports can be provided as soon as possible.  We have limited knowledge about development in these areas in young children with an extra X or Y chromosome, and there is still a lot for us to learn. In this study we are hoping to identify early markers to know which children are at higher risk for behavior differences. With this knowledge 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.
 
Why is study being done:
To better understand the early neuropsychological and social development of children with XXY, XYY and XXX.
 
Who can participate:
Children ages 1 year – 5 years old with any of the following conditions: XXY, XYY or XXX
 
What does the study include?
  • We will ask you questions about the development of your child in person and with online questionnaires
  • Your child will participate in some developmental tests where they will play with puzzles and blocks, and look at pictures
  • We will assess your child’s behavior while looking at pictures and videos while wearing stickers that measure their body’s response
 
How long is the study:
Children will be seen for 2 visits; 1 at baseline and 1 twelve months later.  Each visit will be for 1.5-2 days.
 
More Information:  

Contact trixy@ucdenver.edu 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)

 

The Effects of Testosterone Therapy in Young Adolescents with Klinefelter Syndrome

(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