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 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: Understanding Conversation Skills in Children with an Extra X or Y Chromosome
X and Y variations being studied: XXY (Klinefelter’s Sundrome), Trisomy X and XYY
Genders being studied: All
Age Range: 7 – 14 years, 11 months
Other eligibility requirements:English as first language, and can speak in sentences
Travel required: No
Sponsoring Institution: University of Oxford
Principal Investigator(s):Dorothy Bishop
Link to a more detailed description: www.psy.ox.ac.uk/research/oxford-study-of-children-s-communication-impairments/research-projects/understanding-conversation
Primary funding source(s): European Research Council
Primary Contact: Alexander Wilson (alexander.wilson2@psy.ox.ac.uk)
Date Posted: April 11, 2019
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 – 13 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: Vanessa Alschuler (Stanford) BGAPstudy@stanford.edu, Karen Kowal (Nemours) karen.kowal@nemours.org or Julia Jaen Caban (Nemours) julia.Jaencaban@nemours.org
Date Posted: January 19, 2019
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 Relationship of Physical Function and Psychosocial Health on Quality of Life in Men with 48,XXYY
X and Y variations being studied: 48,XXYY
Genders being studied: Males
Age Range: Adults (18+)
Other eligibility requirements: Non-mosaic 48,XXYY diagnosis; Access to a computer or phone; Completed at least 6th grade education; English speaking
Travel required: No, online or by phone only
Sponsoring Institution: Emory University
Principal Investigator(s): Amy Blumling, MS, CPNP-PC, PhD candidate; Sharron Close (advisor), PhD, MS, CPNP-PC, FAAN
Link to a more detailed description: Study brochure
Primary funding source(s): The Ryan Scovell Memorial Research Fund; Emory University
Primary Contact: Amy Blumling, ablumli@emory.edu, (412-551-1519)
Date Posted: October 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: //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
Name of Study: TESTO Study: Testosterone Effects on Short-Term Outcomes in Infants with XXY
X and Y variations being studied: XXY
Genders being studied: Male
Age Range: Birth to 12 weeks of age at enrollment
Other eligibility requirements: Prenatal diagnosis of XXY, which has been confirmed postnatally
Travel required: Yes, travel to Denver, CO. Travel budget available as needed.
Sponsoring Institution: University of Colorado Denver and Children’s Hospital Colorado
Principal Investigator(s): Shanlee Davis, MD
Link to a more detailed description: Website coming soon
Primary funding source(s): NIH
Primary Contact: TESTO@ucdenver.edu or 720-777- 6774
Date Posted: 10/6/2017
Name of Study: Growing up with X and Y Chromosome Trisomy: The TriXY Study
X and Y variations being studied: XXY, XYY, and XXX
Genders being studied: All genders
Age Range: 12 months to 5 years
Other eligibility requirements: Non-mosaic diagnosis, born at 37+ weeks gestation
Travel required: Yes, to either Denver, Colorado or Leiden, Netherlands. Travel to Denver budget available. Study visits include initial visit and a return visit 12 months later.
Sponsoring Institution: Leiden University and University of Colorado Denver
Principal Investigator(s): Sophie Van Rijn, PhD; Denver site co-investigator: Dr. Nicole Tartaglia
Link to a more detailed description: Website coming soon
Primary funding source(s): Leiden University
Primary Contact: TRIXY@ucdenver.edu or ph: 720-722- 1515
Date Posted: 10/6/2017
Name of Study: The Clinical Study of Patients with Sex Chromosome Variants
X and Y variations being studied: All sex chromosome variants, such as, but not limited to Klinefelter syndrome, 47,XYY, and 47,XXX
Genders being studied: Males and Females
Age Range: Adults (18+)
Other eligibility requirements:
Travel required: Yes. Participants will travel to the NIH Clinical Center in Bethesda, MD (near Washington, DC) for 5 days at no personal cost. One companion may travel with the participant. Travel costs, lodging, and a stipend will be provided.
Sponsoring Institution: National Human Genome Research Institute of the National Institutes of Health (NIH)
Principal Investigator(s): Dr. Maximilian Muenke and Dr. David Page
Link to more detailed description: //clinicaltrials.gov/ct2/show/NCT01661010?term=12HG0181&rank=1
Primary funding source(s): National Institutes of Health
Primary Contact: To participate please contact the NIH Office of Patient Recruitment at 1-800-411-1222 and refer to study 12-HG-0181. Questions? Email Dr. Maximilian Muenke at mamuenke@mail.nih.gov or call 301-402-8167 for more information.
Date Posted: April 2016
Name of Study: The OXYGEN Study: The impact of genetic diagnosis of sex chromosome aneuploidies on life course quality of life
X and Y variations being studied: XYY, XXX, XXY, XXYY
Genders being studied: Male and Female
Age Range:
- Individuals age 16 – 21 diagnosed with XXX, XYY, or XXY (and their parents/guardians)
- Parents of a child (0-21 years) who has been diagnosed with XXX, XYY, or XXY
Other eligibility requirements: None
Travel required: None
Sponsoring Institution: Mayo Clinic
Principal Investigator(s): Dr. Megan Allyse, Dr. Sean Phelan
Link to more detailed description:
Primary funding source(s): Mayo Clinic
Primary Contact: Carolina Jaramillo, Jaramillo.carolina@mayo.edu, 507-266-4892
Date Posted: September 2016