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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.


Name/Purpose of Study: Lipids to Energy, purpose is 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.

X and Y variations being studied: Klinefelter syndrome (47,XXY)

Age Range: 15-30 years

Other eligibility requirements: Diagnosis of 47,XXY/Klinefelter syndrome with testosterone in the normal range, not taking fish oils or statins.

Travel required: Yes, participants must come to Colorado for three study visits.

Sponsoring Institution: University of Colorado

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

Link to a more detailed description: Study website

Primary funding source(s): NIH

Primary Contact: Mia Middleton, lte_xxy@ucdenver.edu

Date Posted: April 23, 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

Link to the online survey

Date Posted: December 7, 2023


Name/Purpose of Study: Perspectives of Individuals with X & Y variations on provider communication and prenatal genetic screening

X and Y variations being studied: All

Genders being studied: All

Age Range: 18+ years

Other eligibility requirements: Diagnosis of any variations in the X or Y chromosome. Participants must be able to speak English.

Travel required: No. Study involves telephone or Zoom interview and online survey.

Sponsoring Institution: University of California San Francisco

Principal Investigator(s): Julie Harris-Wai, PhD, MPH (Julie.Harris-Wai@ucsf.edu)

Link to a more detailed description: Study flyer

Primary funding source(s): University of California San Francisco, Genetic Counseling Program

Primary Contact: Gabrielle Wright at gabrielle.wright@ucsf.edu

Link to the online survey

About the study

Date Posted: November 3, 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

Study Flyer


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: Jonathan Blumenthal at jb364e@nih.gov or 301-435-4516

Date Posted: January 15, 2020


Name of Study: Brain, Behavior and Puberty in Klinefelter Syndrome

X and Y variations being studied: Klinefelter syndrome (47,XXY)

Genders being studied: Male

Age Range: 8-17 years

Other eligibility requirements: None

Travel required: Yes

Sponsoring Institution: Stanford University and Nemours Children’s Health System

Principal Investigator(s): Allan L. Reiss, MD (Stanford) and Judith Ross, MD (Nemours)

Link to a more detailed description: med.stanford.edu/BGAPstudy

Primary funding source(s): NIH

Primary Contact: Stanford, BGAPstudy@stanford.edu, Karen Kowal (Nemours), karen.kowal@nemours.org or Gabriel Stefy (Nemours),  Gabrielle.Stefy@Nemours.org

Date Posted: January 19, 2019 (updated June 3, 2020)

Stanford Study Flyer | Nemours Study Flyer


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