The eXtraordinarY Kids Research Program

Summer 2021 Newsletter

 

eXtraordinarY Babies Study: Researching the Natural History of Health and Neurodevelopment in Infants and Young Children with Sex Chromosome Trisomy

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

(COMIRB# 17-0118, ; PI Dr. Nicole Tartaglia; funded by NIH/NICHD; ClinicalTrials.gov Identifier: NCT03396562)

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. 

What’s Involved:

• If you join the study, the first visit will be a screening visit. On this day, you'll come to the Anschutz campus and have a physical exam, a body scan, and a blood draw as well as do an exercise test. At the end of this visit, you'll be given a sleep watch and an activity monitor to wear for 7 days, and we'll ask you to complete some surveys during this time.
• If you're eligible based on the screening visit, you'll then come in for the first study visit. We'll measure your breathing, place an IV, and have you do another exercise test. At the end of the day, we will do a muscle biopsy. 
• If you have Klinefelter syndrome (XXY), you'll take fenofibrate for a month, and then come back to do a second visit the same as the first.

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 lte_xxy@ucdenver.edu or call the study coordinator at 720-777-6774.
(COMIRB# 21-2860, ; PI Dr. Shanlee Davis) 

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.

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.

Previous Studies (No Longer Enrolling) -- X & Y Variations

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

 

Growing up with X and Y Trisomy: The TriXY Study

• 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

The Effects of Testosterone Therapy in Young Adolescents with Klinefelter Syndrome

Previous Studies (No Longer Enrolling) -- Turner syndrome