Study: National Institutes of Health (NIH) Behavioral, Cognitive, and Brain Imaging Study for Boys and Young Men with XXY (2 day study)
Study Location: Bethesda, MD | USA
Variation: XXY
Gender: Male
Age: 5 to 25 years
Travel required: Yes. Travel costs, lodging, daily meal $ and a stipend will be provided. Two-day study at the NIH in Bethesda, MD.
Hosting Institution: National Institutes of Health (NIH)
Principal Investigator: Dr. Armin Raznahan
Links: Children | Adults | Study PDF
Primary funding source: National Institutes of Health Intramural Research Program
Primary Contact: Jonathan Blumenthal at jb364e@nih.gov or 301-435-4516
Date Posted: October 23, 2018
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Study: Brain, Behavior and Puberty in Klinefelter Syndrome
Study Location: Stanford University California and Nemours Children’s Health System Philadelphia
Variation: Klinefelter syndrome (47 XXY)
Gender: Male
Age: 8 to 13 years
Travel required: Yes. Travel costs, lodging, daily meal $ and a stipend will be provided for each visit.
Hosting Institution: Stanford University and Nemours Children’s Health System
Principal Investigator: Allan L. Reiss, MD (Stanford) and Judith Ross, MD (Nemours)
Links: Website |
Primary funding source: National Institutes of Health
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: December 5th 2019
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Study: The Clinical Study of Patients with Sex Chromosome Variants
Study Location: Bethesda, MD | USA
Variation: All
Gender: All
Age: Adults 18+
Travel required: Yes.Travel costs, lodging, daily meal $ and a stipend will be provided. 5 days at no personal cost along with one companion.
Hosting Institution: National Human Genome Research Institute of the National Institutes of Health (NIH)
Principal Investigators: Dr. Maximilian Muenke and Dr. David Page
Link: More Details
Primary funding source: National Institutes of Health
Primary Contact: 1-800-411-1222 refer to study 12-HG-0181.
Date Posted: April 2016
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Study: Body Composition in Infants with Klinefelter Syndrome and Effects of Testosterone Treatment
Study Location: Denver, CO | USA
Variations: XXY
Gender: Male
Age: 6 – 15 weeks
Other requirements: Non-mosaic genetic diagnosis of 47,XXY, normal birth weight, no history of previous testosterone treatment.
Travel required: Yes, travel to Denver, CO. Travel budget available as needed.
Hosting Institution: University of Colorado, Children’s Hospital Colorado
Principal Investigator: Shanlee Davis, MD
Link: More Details
Primary funding source: CCTSI
Primary Contact: Susan Howell, MS, CGC, Susan.howell@childrenscolorado.org, 720-777-8361
Date Posted: May 2015
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Study: TESTO Study: Testosterone Effects on Short-Term Outcomes in Infants with XXY
Study Location: Denver, CO | USA
Variation: XXY
Gender: Male
Age: Birth to 12 weeks of age at enrollment
Eligibility requirements: Prenatal diagnosis of XXY, which has been confirmed postnatally
Travel required: Yes, travel to Denver, CO. Travel budget available as needed.
Hosting Institution: University of Colorado Denver and Children’s Hospital Colorado
Principal Investigator: Shanlee Davis, MD
Link: More Details
Primary funding source: NIH
Primary Contact: TESTO@ucdenver.edu or 720-777- 6774
Date Posted: 10/6/2017
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Study: The eXtraordinarY Babies Study: Researching the Natural History of Health and Neurodevelopment in Infants and Young Children with Sex Chromosome Trisomy
Study Location: USA
Variations: All
Gender: All
Age: 6 weeks to 12 months old at the time of enrollment
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).
Hosting Institution: University of Colorado Denver, Nemours/Alfred I. DuPont Hospital for Children
Principal Investigator: Dr. Nicole Tartaglia; Co-Investigator: Dr. Judith Ross
Link: Study PDF
Primary funding source: 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
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Study: Learning and Brain Development in Boys with 47,XYY Syndrome, Idiopathic Autism, & Typically Developing Control Boys
Study Location: USA
Variation: XYY
Gender: Males
Age: 6-17
Eligibility requirements: Non-mosaic 47,XYY Syndrome
Travel required: Yes
Hosting Institution: Nemours DuPont Hospital for Children in Wilmington, DE or in Philadelphia, PA
Principal Investigator: Judith Ross, MD
Link: Study PDF
Primary funding source: NIH
Primary Contact: Dr. Judith Ross: JLRoss@nemours.org or 215-955-9008
Date Posted: October 10, 2018
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Study: The Relationship of Physical Function and Psychosocial Health on Quality of Life in Men with 48,XXYY
Study Location: USA
Variation: 48,XXYY
Gender: Males
Age: 18+
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 phone only
Hosting Institution: Emory University
Principal Investigators: Amy Blumling, MS, CPNP-PC, PhD candidate; Sharron Close (advisor), PhD, MS, CPNP-PC, FAAN
Link: Study PDF
Primary funding sources: The Ryan Scovell Memorial Research Fund; Emory University
Primary Contact: Amy Blumling, ablumli@emory.edu, (412-551-1519)
Date Posted: October 2018
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Study: Neural Correlates of the Y Chromosome in Autism: XYY Syndrome as a Genetic Model
Study Location: USA
Variation: XYY
Gender: Male
Age: 6 to 17 years
Eligibility requirements: Non-mosaic 47,XYY Syndrome
Travel required: Yes
Hosting Institution: Nemours/Alfred I. DuPont Hospital for Children, Sites: Philadelphia, PA and Wilmington, DE
Principal Investigator: Judith Ross, MD
Link: More Details
Primary funding source: National Institutes of Health (NIH)
Primary Contact: Karen Kowal, karen.kowal@nemours.org, 215-955- 9008
Date Posted: November 2017
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Name of Study: Growing up with X and Y Chromosome Trisomy: The TriXY Study
Study Location: USA | Netherlands
Variations: XXY, XYY, and XXX
Gender: All
Age: 12 months to 5 years
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.
Hosting Institution: Leiden University and University of Colorado Denver
Principal Investigator: Sophie Van Rijn, PhD; Denver site co-investigator: Dr. Nicole Tartaglia
Primary funding source: Leiden University
Primary Contact: TRIXY@ucdenver.edu or ph: 720-722- 1515
Date Posted: 10/6/2017