As a service to the X and Y variation community, AXYS is pleased to provide the following list of studies that individuals, parents or families may want to consider joining. All listed studies have been approved by their respective Institutional Review Boards (IRB), and a copy of that approval is on file with AXYS. The announcements and parties conducting and sponsoring the research meet guidelines established by AXYS regarding relevancy and appropriateness to X and Y variations. AXYS takes no position and makes no claims as to the potential benefits of the studies, including those studies involving medications, and cannot be responsible for any outcomes, lack of outcomes or unintended side effects. If interested in participating in this research, please use the contact information in the announcement.
Learn how you can support X&Y chromosome variation research by joining the GALAXY Registry: Generating Advancements in Longitudinal Analysis in X&Y Chromosome Variations
Name/Purpose of Study: The Voices Study: Learning from youth about their care needs and priorities
X and Y variations being studied: Klinefelter syndrome (47,XXY)
Genders being studied: No restrictions based upon gender
Age Range: 11-21 years
Other eligibility requirements: Diagnosis of 47,XXY/Klinefelter syndrome, must be able to understand basic sentences and questions in English, access to a web-capable device, access to an internet connection
Travel required: No
Sponsoring Institution: Children’s National Hospital
Principal Investigator(s):
Link to a more detailed description: Study flyer
Primary funding source(s): National Institutes of Health (NIH)
Primary Contact: Alejandro Todd, datodd@childrensnational.org, 301-765-5573
Date Posted: November 12, 2024
Name/Purpose of Study: Physical Fitness and Quality of Life Assessment in Children and Adolescents with Klinefelter Syndrome
X and Y variations being studied: Klinefelter syndrome (47,XXY)
Genders being studied: No restrictions based upon gender
Age Range: 10-14 years
Other eligibility requirements: Diagnosis of 47,XXY/Klinefelter syndrome. Activities may include hiking, biking, horseback riding, kayaking/canoeing, and miniature golf.
Travel required: Yes
Sponsoring Institution: Ann & Robert H. Lurie Children’s Hospital of Chicago
Principal Investigator(s): Courtney Finlayson, MD
Link to a more detailed description: Study flyer
Primary funding source(s): Ann & Robert H. Lurie Children’s Hospital of Chicago
Primary Contact: Danielle Lee, Leeda@luriechildrens.org, 312-227-6203
Date Posted: August 7, 2024
Name/Purpose of Study: Exploring the Transition From Pediatric to Adult Care in Patients with Klinefelter Syndrome
X and Y variations being studied: Klinefelter syndrome (47,XXY)
Genders being studied: No restrictions based upon gender
Age Range: 14-26 years
Other eligibility requirements: Diagnosis of 47,XXY/Klinefelter syndrome. Participants must be able to speak English.
Travel required: No. Study involves an online survey and an optional post-survey interview, also conducted remotely.
Sponsoring Institution: University of Colorado
Principal Investigator(s): Susan Howell, MBA, MS, CGC
Link to a more detailed description: Study flyer
Primary funding source(s): University of Colorado
Primary Contact: Aaron Holben, aaron.holben@cuanschutz.edu, 360-635-7001
Date Posted: December 7, 2023
Name/Purpose of Study: The ASSERT: All StakeholderS Engaged in Research Together project seeks to engage people on the autism spectrum, with Down syndrome, or with other intellectual or developmental disabilities (IDD) along with caregivers, clinicians, and researchers. The goal is to build an online learning community where these stakeholders learn about research together in a way that is collaborative and multidirectional (all learners gain knowledge from each other).
X and Y variations being studied: All
Genders being studied: All
Age Range: 18+
Other eligibility requirements: People ages 18 or older on the autism spectrum, with Down syndrome, or with IDD; caregivers (including adult siblings) of a person on the autism spectrum, with Down syndrome, or with IDD; clinicians who care for those on the autism spectrum, with Down syndrome, or with IDD; and researchers engaged in research focused on the autism spectrum, Down syndrome, or IDD. Must have internet access and a web-capable device.
Travel required: No
Sponsoring Institution: Vanderbilt University
Principal Investigator(s): Beth Malow, MD, MS
Link to a more detailed description: vkc.vumc.org/studyfinder/552 | Study Brochure
Primary funding source(s): Vanderbilt University
Primary Contact: assert@vumc.org
Date Posted: May 13, 2022
Name/Purpose of Study: The Relationship Between Anxiety and Quality of Life in Trisomy X
X and Y variations being studied: Trisomy X
Genders being studied: Female
Age Range: 18-30 years
Other eligibility requirements: Diagnosis of non-mosaic Trisomy X. Participants must have access to a computer or smart phone/tablet, an internet connection, and be able to speak English.
Travel required: No. Study involves participation in online/virtual focus group.
Sponsoring Institution: Emory University, Nell Hodgson Woodruff School of Nursing
Principal Investigator(s): Amy A. Blumling, PhD, CPNP-PC
Link to a more detailed description: Study flyer
Primary funding source(s): Emory University, Nell Hodgson Woodruff School of Nursing
Primary Contact: Amy A. Blumling, PhD, CPNP-PC at 412-551-1519 or ablumli@emory.edu
Date Posted: April 22, 2021
Name/Purpose of Study: Fatty Liver Research
X and Y variations being studied: All
Genders: All
Other eligibility requirements: Diagnosis of NAFLD or NASH
Travel required: MRE/other testing to be performed at Cedars-Sinai Liver Disease and Transplant Center
Sponsoring Institution: Cedars-Sinai
Principal Investigator(s): Dr. Mazen Noureddin
Primary funding source(s): Cedars-Sinai
Primary Contact: Bryan Gonzalez, bryan.gonzalez@cshs.org, 310-423-2473 or 310-967-7004
Date Posted: March 31, 2021
Name of Study: MyPaTH Story Booth
X and Y variations being studied: All
Genders being studied: All
Age Range: 18+ years
Other eligibility requirements: Able to read and understand English
Travel required: No, interview by phone
Sponsoring Institution: Patient-Centered Outcomes Research Institute
Principal Investigator(s): Kathleen McTigue, MD, University of Pittsburgh, UPMC, PaTH CDRN
Link to a more detailed description: www.pathnetwork.org/research/MyPaTH_story_booth.html | Study Flyer
Primary funding source(s): Patient-Centered Outcomes Research Institute
Primary Contact: mystory@pitt.edu | 412-208-5241
Date Posted: February 19, 2020
Name of Study: National Institutes of Health (NIH) Behavioral, Cognitive, and Brain Imaging Study for Girls and Young Women with Trisomy X (2 day study)
X and Y variations being studied: Trisomy X
Genders being studied: Female
Age Range: 5 to 25 years
Other eligibility requirements:
Travel required: Yes. 2 day study near Washington, DC. Flights and lodging are provided, along with a meal allowance and participant payment.
Sponsoring Institution: National Institutes of Health (NIH)
Principal Investigator(s): Dr. Armin Raznahan
Link to a more detailed description: Children w/ X & Y Chromosome Variations | Adults w/ X & Y Chromosome Variations | Study Flyer
Primary funding source(s): National Institutes of Health Intramural Research Program
Primary Contact: Bobby Das at dasb@mail.nih.gov or 301-435-4516
Date Posted: January 15, 2020
Name of Study: Learning and Brain Development in Boys with 47,XYY Syndrome, Idiopathic Autism, & Typically Developing Control Boys
X and Y variations being studied: XYY
Genders being studied: Males
Age Range: 6-17 years
Other eligibility requirements: Non-mosaic 47,XYY Syndrome
Travel required: Yes
Sponsoring Institution: Nemours DuPont Hospital for Children in Wilmington, DE or in Philadelphia, PA
Principal Investigator(s): Judith Ross, MD
Link to a more detailed description: Study Flyer
Primary funding source(s): NIH
Primary Contact: Dr. Judith Ross, JLRoss@nemours.org or 215-955-9008
Date Posted: October 10, 2018
Name of Study: The eXtraordinarY Babies Study: Researching the Natural History of Health and Neurodevelopment in Infants and Young Children with Sex Chromosome Trisomy
X and Y variations being studied: All variations
Genders being studied: All
Age Range: 6 weeks to 6 years, 2 months old at the time of enrollment
Other eligibility requirements: Children must have a prenatal diagnosis of XXY, XYY, XXX, XXYY, or other sex chromosome variations
Travel required: Yes. Study sites include Colorado, Delaware or Philadelphia. Travel budget included if needed. There are 4-8 total study visits over 2-4 years (depending on age at enrollment). Visits alternate between in-person and telehealth.
Sponsoring Institution: University of Colorado Denver, Nemours/Alfred I. DuPont Hospital for Children
Principal Investigator(s): Dr. Nicole Tartaglia; Co-Investigator: Dr. Judith Ross
Link to a more detailed description: Study Flyer
Primary funding source(s): National Institute of Child Health and Development
Primary Contact: Colorado area – extraordinarykids@ucdenver.edu or 720-808- 0873 | Delaware area – karen.kowal@nemours.org or 215-955-9008
Date Posted: March 2018