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: Family Experiences and Attitudes on Support When Receiving the Diagnosis of an X & Y Chromosome Variation
X and Y variations being studied: All variations
Genders being studied: All
Age Range: 16+
Other eligibility requirements: You or a family member received a diagnosis of an X and/or Y chromosome variation
Travel required: No
Sponsoring Institution: The Mayo Clinic
Principal Investigator(s): Megan Allyse, PhD in collaboration with Sharron Close, PhD
Link to a more detailed description: redcap3.mayo.edu/redcap/surveys/?s=A8K7CWCA4E
Primary funding source(s): N/A
Primary Contact: 507-284-1494 or email riggan.kirsten@mayo.edu
Date Posted: September 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 Brochure
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: SURVEY – Non-Invasive Prenatal Testing (NIPT)
X and Y variations being studied: All variations
Genders being studied: All
Age Range: 18+
Other eligibility requirements: Recent NIPT or any time in the past that showed increased risk for X & Y chromosome variations, you are eligible to participate.
Travel required: No
Sponsoring Institution: Emory University
Principal Investigator(s): Dr. Sharron Close
Link to a more detailed description: /emory-universitys-nipt-study/
Primary funding source(s): N/A
Primary Contact: Janette diMonda at 770-880- 5218
Date Posted: January 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: Accessible Genetic Counseling Information for Parents Undergoing Non-Invasive Prenatal Screening (NIPS)
X and Y variations being studied: Applicable to parents of children with any X and/or Y chromosome variation
Genders being studied: Males and Females
Age Range: Adults (18+)
Other eligibility requirements: Mothers and fathers who have had non-invasive prenatal screening (NIPS)
Travel required: No, online only
Sponsoring Institution: Emory University
Principal Investigator(s): Sharron Close, PhD, MS, CPNP-PC, FAAN
Link to a more detailed description: Study Brochure
Primary funding source(s): None
Primary Contact: Janette diMonda, janette.l.dimonda@emory.edu, , 770-880-5218
Date Posted: September 2017
Name of Study: Facial features in children with extra sex chromosomes
X and Y variations being studied: XXY, XYY, XXX, XXXY, XXYY, XXXX, XXXXX
Genders being studied: Males and Females
Age Range: Birth to 21 years
Other eligibility requirements: Confirmed sex chromosome variation with digital facial images at different ages
Travel required: No
Sponsoring Institution: Cedars-Sinai Medical Center
Principal Investigator(s): John M Graham Jr MD, ScD, Michelle Schweiger MD, Bianca Russell MD
Link to a more detailed description: Click here
Primary funding source(s): None
Primary Contact: John M Graham, Jr MD, ScD
Date Posted: May 2017
Name of Study: IMAGINE ID – Intellectual Disability and Mental Health: Assessing the genomic impact on neurodevelopment
X and Y variations being studied: Sex Chromosome Aneuploidies
Genders being studied: Male and Female
Age Range: 6+ the participant has a parent who is able to answer questionnaires about the participant’s early development
Other eligibility requirements: Confirmed genetic diagnosis and intellectual disabilities
Travel required: None
Sponsoring Institution: Cambridge University Hospitals NHS Foundation Trust and the University of Cambridge
Principal Investigator(s): Prof David Skuse & Prof Lucy Raymond
Link to more detailed description: //imagine-id.org/
Date Posted: May 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: Cardiometabolic Profiles of Boys with Klinefelter Syndrome (47,XXY)
X and Y variations being studied: Klinefelter syndrome (47,XXY)
Genders being studied: Male
Age Range: Adolescent boys (12 – 17 years old)
Other eligibility requirements: Confirmed non-mosaic 47,XXY genetic diagnosis, males who have started puberty, no medical problems that would interfere in ability to complete the assessment
Travel required: Yes
Sponsoring Institution: University of Colorado, Children’s Hospital Colorado
Principal Investigator(s): Shanlee Davis, MD
Link to more detailed description: //clinicaltrials.gov/ct2/show/NCT02723305
Primary funding source(s): CCTSI
Primary Contact: Susan Howell, MS, CGC, Susan.howell@childrenscolorado.org, 720-777-8361
Date Posted: May 2016
Name of Study: National Institutes of Health (NIH) Behavioral, Cognitive, and Brain Imaging Study for Boys and Young Men with XYY
X and Y variations being studied: XYY (other variations will be studied in the near future)
Genders being studied: Male (females with Trisomy X will be studied in the near future)
Age Range: 5 to 25 years
Other eligibility requirements:
Travel required: Yes. 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 more detailed description:
//www.nimh.nih.gov/labs-at-nimh/join-a-study/children/children-x-amp-y-chromosome-variations.shtml
//www.nimh.nih.gov/labs-at-nimh/join-a-study/adults/adults-x-amp-y-chromosome-variations.shtml
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: March 2016
Name of Study: Body Composition in Infants with Klinefelter Syndrome and Effects of Testosterone Treatment
X and Y variations being studied: Klinefelter Syndrome (47,XXY)
Genders being studied: Male
Age Range: 6 – 15 weeks
Other eligibility requirements: Confirmed non-mosaic genetic diagnosis of 47,XXY, normal birth weight, no history of previous testosterone treatment
Travel required: Yes
Sponsoring Institution: University of Colorado, Children’s Hospital Colorado
Principal Investigator(s): Shanlee Davis, MD
Link to more detailed description: //clinicaltrials.gov/ct2/show/NCT02408445
Primary funding source(s): CCTSI
Primary Contact: Susan Howell, MS, CGC, Susan.howell@childrenscolorado.org, 720-777-8361
Date Posted: May 2015
Name of Study: Psychological and Motor Effects of Testosterone Therapy in Young Adolescents with Klinefelter Syndrome (47,XXY)
X and Y variations being studied: Klinefelter Syndrome (47,XXY)
Genders being studied: Male
Age Range: Adolescents in early puberty (around age 10 – 15)
Other eligibility requirements: Confirmed non-mosaic genetic diagnosis of 47,XXY, English-speaking, no medical problems that would interfere in ability to complete the assessment
Travel required: Yes
Sponsoring Institution: University of Colorado, Children’s Hospital Colorado
Principal Investigator(s): Nicole Tartaglia, MD
Link to more detailed description: //www.clinicaltrials.gov/ct2/show/NCT01585831
Primary funding source(s): NIH/NINDS
Primary Contact: Susan Howell, MS, CGC, Susan.howell@childrenscolorado.org, 720-777-8361
Date Posted: March 2012
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