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 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/Purpose of Study: Adolescence: A Patient Population With a Need to be Understood. The retrospective study explores the resources and genetic counseling offered by clinics and programs to adult patients in their adolescence. We hope to learn about how, and if, the resources and genetic counseling offered in adolescence addressed their needs as adolescent patients with a genetic condition and how we can improve current resources for adolescents today.
X and Y variations being studied: All
Genders: All
Age Range: 18 years and older
Other eligibility requirements: Diagnosed between early childhood and adolescence with a genetic condition. Must be able to complete survey independently.
Travel required: No, survey may be completed through any device
Sponsoring Institution: Bay Path University, Masters of Genetic Counselling Program
Principal Investigator(s): Veronica Cadavid, Dr. Susan Capasso, MS. EdD LCGC (faculty advisor), and Dr. Jennifer Duffy, PhD (faculty advisor)
Link to the survey: www.surveymonkey.com/r/ZK7LHDM
Primary funding source(s): Bay Path University
Primary Contact: Veronica Cadavid at vcadavid@baypath.edu or (717) 746-8586
Name/Purpose of Study: Exploring the experiences of individuals in the emerging adulthood period of life, defined as the ages of 18-29, who have a diagnosis of 47,XXY (Klinefelter Syndrome)
X and Y variations being studied: 47,XXY (Klinefelter Syndrome)
Age Range: 18-29 years old
Other eligibility requirements: None
Travel required: None (online survey)
Sponsoring Institution: Brandeis University
Principal Investigator(s): Clare Morris, Master’s student in Genetic Counseling at Brandeis University
Link to the survey: brandeis.qualtrics.com/jfe/form/SV_3qsW3oYSDZGlH93
Primary funding source(s): Brandeis University
Primary Contact: claremorris@brandeis.edu
Date Posted: December 8, 2020
Name of Study: Testing a transition passport for Klinefelter syndrome
X and Y variations being studied: XXY
Age Range: Adults, 18 and up with XXY and parents of individuals with XXY
Other eligibility requirements: Able to read and understand English
Travel required: None (online survey)
Sponsoring Institution: Boston College
Principal Investigator(s): Andrew Dwyer, PhD, FNP-BC, FNAP, Assistant Professor, Boston College, William F. Connell School of Nursing
Link to the survey: bostoncollege.co1.qualtrics.com/jfe/form/SV_71Xyp72ZPTcicWp
Primary funding source(s): Investigator Funded
Primary Contact: andrew.dwyer@bc.edu | 617- 552-1711
Date Posted: October 29, 2020
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 – 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 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
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):Ashley J Buscetta, CRNP, National Human Genome Research Institute (NHGRI)
Link to more detailed description: https://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 Ashley J Buscetta, CRNP, ashley.buscetta@nih.gov or call 301-496-3033.
Date Posted: April 2016