Research Opportunities for X&Y Chromosome Variations

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AXYS is pleased to provide the following list of studies that our community members may consider joining. All listed studies have been approved by an Institutional Review Board (IRB) and meet guidelines established by AXYS regarding relevancy to X&Y variations. AXYS takes no position and makes no claims as to the potential benefits of the studies, and cannot be responsible for any outcomes or unintended side effects. If interested in participating, please use the contact information in the listing.


Name/Purpose of Study: TREAT-KS: An Evaluation of a Testosterone Replacement Therapy Patient Education Material for Adolescents and Young Adults with Klinefelter Syndrome

X and Y variations being studied: 47,XXY

Genders being studied: All

Age Range: 14-25 years

Other eligibility requirements: Individuals with mosaic KS (46,XY/47,XYY) are eligible but higher order X aneuploidies (i.e., 48,XXXY and 49,XXXXY) are not. Individuals must be able to read English.

Travel required: No

Sponsoring Institution: Ann & Robert H. Lurie Children’s Hospital of Chicago, Northwestern University

Principal Investigator(s): Allison Weisman, MS, CGC

Link to a more detailed description: https://redcap.luriechildrens.org/surveys/?s=YLMNN8EYAJCWWEPK

Primary funding source(s): Northwestern University Graduate Program in Genetic Counseling

Primary Contact: Sofia Marrufo, sofia.marrufo@northwestern.edu

Date Posted: May 15, 2025

Study Flyer


Name/Purpose of Study: GALAXY Registry: Generating Advancements in Longitudinal Analysis in X&Y Chromosome Variations

X and Y variations being studied: All

Genders being studied: All

Age Range: All

Other eligibility requirements: Genetic test results confirming X&Y variation

Travel required: No

Sponsoring Institution: University of Colorado

Principal Investigator(s): Shanlee Davis, MD, PhD

Link to a more detailed description: www.galaxyregistry.org

Primary funding source(s): AXYS, Living with XXY, University of Colorado

Primary Contact: galaxy@ucdenver.edu

Date Posted: May 8, 2025


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: Male

Age Range: 10-17 years

Other eligibility requirements: Patients must know their Klinefelter syndrome diagnosis, speak English, and be able to travel to Chicago, if live out of state. Participation in all days is encouraged but not required.

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 | Register for the study

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 (updated June 5, 2025)


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

Link to the online survey

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 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.edu412-208-5241

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