family

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: Impact of Therapies and Supports on the Quality of Life of Men with Klinefelter Syndrome

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

Genders being studied: Male

Age Range: 18 years or older

Other eligibility requirements: Participants must have a diagnosis of Klinefelter syndrome, access to the Internet and a device capable of web browsing. Participants must be able to read and understand English.

Travel required: No

Sponsoring Institution: Massachusetts General Hospital Institute of Health Professionals (MGH IHP)

Principal Investigator(s): Frances High, MD, PhD

Link to a more detailed description: Study Flyer

Primary funding source(s): Massachusetts General Hospital Institute of Health Professionals (MGH IHP)

Primary Contact: Madison Cheney, mcheney@mghihp.edu or the Principal Investigator, Frances High, fhigh@partners.org

Link to study survey: redcap.link/ksqolsurvey

Date Posted: October 19, 2021


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 and up

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 | 412-864-3025

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 (47,XXY)

Genders being studied: Male

Age Range: 8 – 17 years old

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

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 12 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).

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


Name of Study: Neural Correlates of the Y Chromosome in Autism: XYY Syndrome as a Genetic Model

X and Y variations being studied: XYY

Genders being studied: Male

Age Range: 6 to 17 years

Other eligibility requirements: Non-mosaic 47,XYY Syndrome

Travel required: Yes

Sponsoring Institution: Nemours/Alfred I. DuPont Hospital for Children, Sites: Philadelphia, PA and
Wilmington, DE

Principal Investigator(s): Judith Ross, MD

Link to a more detailed description: https://www.nemours.org/pediatric-research/clinicaltrials/autism-740262.html

Primary funding source(s): National Institutes of Health (NIH)

Primary Contact: Karen Kowal, karen.kowal@nemours.org, 215-955- 9008

Date Posted: November 2017