Government Clinical Trials

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: 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