family

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: 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: Perspectives and Experiences of Parents: Fertility Preservation for Males with Klinefelter Syndrome

X and Y variations being studied: Klinefelter Syndrome (47,XXY)

Genders being studied: All genders (any parent of an XXY male)

Age Range: All ages

Other eligibility requirements: Eligible participants will be the parent or guardian of a son with a diagnosis of Klinefelter Syndrome, will be over the age of 18, and English-speaking. The son with Klinefelter Syndrome may be of any age. Either or both parents of an XXY male may fill out the survey. If both parents of an XXY male complete the survey, responses will be treated individually.

Travel required: None—online survey

Sponsoring Institution: CSU Stanislaus, MS Genetic Counseling Program

Principal Investigator(s): Monica Datta (MS Genetic Counseling Student) and Dr. Janey Youngblom, PhD

Link to a more detailed description: The purpose of the research is to understand parents’ opinions on fertility preservation procedures for their XXY son. We also hope to learn what fertility preservation procedures are currently being offered to XXY boys, if any, and what factors parents consider when deciding if they should undergo these procedures. If you are interested in participating, please use this link which will take you to the survey:
http://csustan.co1.qualtrics.com/jfe/form/SV_6KltVBlMJteoC8Z

Primary funding source(s): CSU Stanislaus, Department of Biology

Primary Contact: Monica Datta (mdatta@csustan.edu)

Date Posted: November 6, 2017


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: XXY, XYY, XXX, XXYY, and other sex chromosome variations are
eligible

Genders being studied: All genders

Age Range: 6 weeks to 12 months old at the time of enrollment

Other eligibility requirements: Prenatal diagnosis

Travel required: Yes, to either Denver or Delaware. Travel budget available if needed. There are 4-8
total study visits over 2-4 years (depending on age at enrollment).

Sponsoring Institution: University of Colorado Denver

Principal Investigator(s): Dr. Nicole Tartaglia; Co-Investigator: Dr. Judith Ross

Link to a more detailed description: Website coming soon

Primary funding source(s): NICHD

Primary Contact: extraordinarykids@ucdenver.edu or ph: 720-808- 0873

Date Posted: 10/6/2017


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

Participate in the Study


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: http://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: 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 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: https://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:

http://www.nimh.nih.gov/labs-at-nimh/join-a-study/children/children-x-amp-y-chromosome-variations.shtml

http://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: https://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: http://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:

  1. Individuals age 16 – 21 diagnosed with XXX, XYY, or XXY (and their parents/guardians)
  2. 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