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: 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: Voices of Patients for Clinical Excellence Study (VOICES)
X and Y variations being studied: 47,XXY (Klinefelter syndrome)
Genders being studied: Male
Age Range: Individuals with Klinefelter Syndrome 15-30 years of age; parents or legal guardians of youth (ages 12-18) with Klinefelter Syndrome
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: Nationwide Children’s Hospital
Principal Investigator(s): Canice E. Crerand, Ph.D., Amy Tishelman, Ph.D.
Link to a more detailed description: Study Flyer
Primary funding source(s): NIH-National Institute on Minority Health and Disparities (NIH-NIMHD)
Primary Contact: Hailey Umbaugh, Hailey.Umbaugh@nationwidechildrens.org or the Principal Investigator, Canice Crerand, canice.crerand@nationwidechildrens.org
Date Posted: December 14, 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
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