Wednesday, September 02, 2015

Research and Clinical Trials



  • Research is vital to individuals with X and Y chromosome variations.
  • Research provides answers to unanswered questions.
  • Research discovers effective treatments and therapies.
  • And, perhaps most important, research raises awareness and promotes early diagnosis.


If you want to know more about individual studies, scroll down the page and find an “I’m Interested” button and read the study description…

To find out what clinical trials are, click here.


Post New Trials


If you are the Principal Investigator or other responsible person for a study that you believe may be applicable to one or more of the X and/or Y chromosome aneuploidy population that AXYS serves, we would be happy to post information concerning your research on our website.

Click here for more information


Current Research Studies


About our Research Partners

There are many researchers focusing on X and Y chromosome variations worldwide.  Here is one illustration from the eXtraordinarY Kids Clinic in Denver, CO, USA.

Below are specific research recruiting announcements.  Please scroll down to view all studies.  All listed studies are open and actively recruiting. 

Research study of muscle, fat, and hormones in infant boys with Klinefelter syndrome (47,XXY)

Purpose of the Research Study:
This research study in infant males with Klinefelter syndrome (47,XXY) will learn more about body composition (muscle and fat) and male hormones and look at the effect of testosterone shots on body composition. We know that older boys and men with Klinefelter syndrome often have more fat compared to muscle than adults without Klinefelter syndrome, but we do not know if this difference is present at birth or develops over time. We will also learn if body composition has an effect on motor skills development and whether testosterone makes it better.

Procedures involved:
PEA POD Example

Duration of participation is 3 months. Infants with Klinefelter syndrome who are between 6 and 15 weeks of age will get their body composition measured by a PEA POD, a pain-free and rapid measure of body composition. Infants in the study will also have a blood draw and a urine collection. They will also have an assessment by an occupational therapist to evaluate motor skills. Half of the participants will be randomly selected to get a low-dose testosterone shot every month for 3 months. The PEA POD and motor development assessment will be repeated at the end of the study for all participants. Compensation is provided..

Inclusion criteria:
Infants 6-15 weeks old with a confirmed genetic diagnosis of 47,XXY (Klinefelter syndrome) who were born at a normal weight and have never received testosterone previously.
Contact: If you are pregnant with or have an infant less than 3 months old with 47,XXY (Klinefelter syndrome) and are interested in this study, please contact us to discuss more details about this study.   Susan Howell, MS, CGC
Phone 720-777-8361 or Email:

Deadline: Open

Dr. Shanlee Davis is the principal investigator of this study at the University of Colorado, Children’s Hospital Colorado,
eXtraordinarY Kids Clinic

Shanlee Davis, MD


 This study will study the effects of testosterone therapy on behavior, mood, problem solving, attention span, and motor skills in adolescent males with Klinefelter syndrome in early puberty. During this period in early puberty there is a lot of variability in how and when doctors start testosterone therapy. This study will evaluate if there are benefits to starting testosterone therapy in early puberty.
Participants with Klinefelter syndrome in early puberty (around age 10-15) will be treated with either testosterone gel or a placebo (inactive) gel and followed for 1 year. Participants will be followed for changes in behavior, emotions, cognitive abilities, executive functioning, motor skills (strength, balance, coordination), and physical features (pubertal development, body habitus, gynecomastia).
This study is conducted in Denver and includes 5 visits over 1 year. Study assessments include IQ and executive function assessment, motor skills assessment, and behavioral questionnaires completed by the participant and caretakers. The testing is conducted in two sessions of approximately 3 ½ hours each over 1-2 days during select
visits. Participants are provided with the study medication and gift cards as a token of appreciation. Travel to Denver, Colorado may be provided.
Assessments are completed as part of the research study, and a summary of research testing results will be provided.

Dr. Nicole Tartaglia is the Principal Investigator of this study at the University of Colorado,
Children’s Hospital Colorado.


FAQ about this study....including information about care for individuals prescribed the placebo.


Susan Howell, Clinic Coordinator
University of Colorado at Denver
Health Sciences Center
Child Development Unit
13123 East 16th Avenue, B140
Aurora, CO 80045


Phone: (720) 777-8361

Email: Susan Howell, Clinic Coordinator

COMIRB 11-0874



Deadline: Open
Dr. Nicole Tartaglia is the Principal Investigator of this study at the University of Colorado, Children’s Hospital Colorado. 
This study is funded by the National Institutes of Health (NIH). This trial is registered on at:
Please see for more information. 


Evaluating the Effect of X/Y Chromosome on Immune System Health

This study will evaluate the effects of X and/or Y chromosome variations on the health of your immune system. Immune system defends us against all kinds of pathogens including bacteria, fungi and viruses, and provides surveillance against cancer.  However, sometimes our defense system revolts against our own body, resulting in conditions called autoimmune diseases that affect every organ system in our body. Interestingly, many genes that can profoundly affect our immune system are located on X chromosome. Autoimmune conditions are also 2-13-fold more prevalent in women (XX) than in men (XY). Hence, it is imperative to assess the health of our immune system in individuals with variations in X and/or Y chromosomes.    

We will perform a detailed evaluation of immune system in individuals with X/Y variations (XXY, XYY, XXX, X0, mosaics, or any other X/Y variation). In order to find out whether X/Y variations affect immune system health, we will need to perform a simultaneous assessment of immune system in individuals with 46,XX women and 46,XY men, who will ideally be matched for ethnicity and age+/- 5 years, and friends or acquaintances of individuals with X/Y variations. We request that everyone with this condition try to participate in the study, so that the results of study are representative of the X/Y variations

Participation involves each subject completing a confidential questionnaire – online or paper version. We request that participants also provide a blood sample – that can be collected by coming to UCLA, at AXYS meetings, or by shipping collection packets to any location without expense to participants.


Rita Okorogu, M.D.
Eric Yen, M.D., M.S.

UCLA School of Medicine

1000 Veteran Avenue, Rm 32-59
Los Angeles, CA 90095-1670



Phone: (310) 206-1883

Alternative Emails:

Fax: (310) 206-8606

Deadline: Open

Dr. Ram Raj Singh is the Principal Investigator of this study.  This study is funded by the National Institutes of Health (NIH).

Ram Raj Singh, MD
Professor of Medicine and Pathology
Director, Basic and Translational Research
David Geffen School of Medicine at UCLA
1000 Veteran Avenue, Room 32-59
Los Angeles, CA 90095-1670   


Learning and Brain Development in Boys with Klinefelter Syndrome

Boys with 47, XXY  
Ages 7-11 years

Click for Printable Flyer

This interdisciplinary research study is specifically designed to increase our understanding of learning, behavior, genetics, and brain development in 47, XXY or Klinefelter syndrome (KS). We are recruiting boys between the ages of seven and eleven years, who have non-mosaic KS (47XXY, as confirmed by standard karyotype) and no history of testosterone treatment. Boys with 47, XXY  
Ages 7-11 years
Study participation consists of three components: 1) a comprehensive neuropsychological and behavioral evaluation using standardized assessments, 2)  magnetic resonance imaging (MRI) scans of the brain, and 3) a blood draw of 30mL from patients and parents. It is important to note that MRI scans are considered to be safe for use with children, and carries no greater risk than everyday activities, such as playing sports or riding in cars. There is no sedation used for MRI scans in this study.
This study is conducted at Stanford University in California and will comprise of one visit. Participants and their families will be provided a report of the neuropsychological evaluation, with the option of an individual consultation with our PI, Dr. Reiss, to address questions or concerns. Participants will also take home a detailed picture of their brain scan as a souvenir.
Our study covers the cost of travel, lodging, and a meal stipend for participating families for the duration of their time at Stanford. Families receive a $150 gift for participation.  


Annalisa Koch, MA
Recruitment Coordinator


Center for Interdisciplinary Brain Sciences Research
Stanford University School of Medicine
401 Quarry Road MC5795
Stanford, CA 94305
Phone: (650) 724-2939

Deadline: Open


Children with an extra sex chromosome: Klinefelter’s Syndrome, Trisomy X, and 47,XYY

Looking for volunteers to take part in our study:
Children with language, reading and communication problems    
At the University of Oxford we are doing a study to find out why some children have difficulties with learning to talk, understand or to read. We have found that children with an extra X or Y chromosome are more likely than other children to have problems with language, reading or communication.
We are looking for children aged 5-16 years old with an extra sex chromosome who live in the UK to take part in our research.  If you and your child would be interested in taking part in our research, we could come to visit your child either at home or at school for an assessment lasting around 2 hours.  During the assessments we would do some reading, speaking, reasoning and language tasks.  We would also do a test to measure blood flow in the two halves of the brain while the child tells a story.  We also take a saliva sample from each child for testing DNA as well as from both parents, and ask parents to complete 3 questionnaires about their child’s development.
We have a study video which explains more about our study which can be found here:

We also have a website describing our research in detail:


Oxford Study of Children's Communication Impairments (OSCCI)
Department of Experimental Psychology, University of Oxford
9 South Parks Road
tel - +44 (0)1865 271386
email -
Deadline: 3/4/16
Chief Investigator: Professor Dorothy Bishop
Tel: 01865 271369
Fax: 01865 281255


Blood samples from pregnant women carrying a fetus with a sex chromosome abnormality are needed!

The goal of this study is to develop a prenatal blood test that can diagnose genetic disorders in the fetus by looking at fetal DNA (genetic material) found in the mother’s bloodstream during pregnancy.  If successful, this will reduce the need for invasive testing during pregnancy and allow women to find out accurate information regarding their baby’s health early in the pregnancy.

Who is eligible?

  • Women and their partners (presumed biological father of the fetus) who are currently pregnant and carrying a fetus that has been diagnosed with Turner syndrome, Klinefelter syndrome, Triple X Syndrome, or 47,XYY.

What do I need to do?

·      The mother and biological father (if available) will be asked to provide a blood sample.  There will be 4 tubes collected from the mother (approximately 3 tablespoons) and 1 tube collected from the father (2 teaspoons).  The samples will be collected at no cost to the couple. 

·      What are the benefits?
Neither subjects nor their doctor will receive any results from the study.  Therefore, there is no direct benefit from participating.  This study and the subjects who participate may help other women in the future if the study results in a new test available to pregnant women. 

Each couple will receive $100 for their participation.


Call research at Natera at 877-476-4743 X 446 or email at if interested.

Deadline: Open


CCUMC Cohort Study of boys between the ages of 8 and 18 years

Renewed Call for Study Participants


The Division of Pediatric Endocrinology at Columbia University Medical Center continues to seek boys with KS (47, XXY) between the ages of 8 and 18 years for a study on growth & development, body composition, hormones, metabolic and psychosocial health factors. To be eligible, boys must be between the ages of 8-18 years, be English-speaking and able to read at the first grade level. In the event an affected (47 XXY) boy is unaware of his diagnosis, non-disclosure will be maintained as per the parent wishes. Since we are measuring affected and non-affected boys, participants may not be aware of whether or not they are affected.

Each participant will receive a free medical exam, blood tests and a $25 American Express gift card for his participation. Parking will also be paid by the study. This study is currently underway. For more information, please visit our study website: or contact Sharron Close at 914-420-4508 for enrollment or for more information about this research opportunity.


Sharron Close, PhD (c), MS, RN, CPNP-PC
Co-Principal Investigator
Irving Pediatric Clinical Research Center
Columbia University Medical Center
New York City, NY


Phone: (914) 420-4508

Email: Sharron Close, Co-Principal Investigator

Deadline: Open

UCLA Study Concerning the Effect of the X-Chromosome on Determining Sexual Orientation

Dr. Eric Vilain, Director of the UCLA Center for Gender-Based Biology, leads an interdisciplinary team of biologists and psychologists who are seeking to better understand the role that parental origin and skewed inactivation of the X chromosome may play in determining sexual orientation. This study seeks to correlate the parental origin and X-inactivation profile of the X chromosomes with the sexual orientation of the individual, and specifically to compare the genotype and X-inactivation profile of homosexual men with heterosexual men. Dr. Vilain and his staff are currently recruiting adults (18 and over) who are 47,XXY or 48,XXYY (either heterosexual or homosexual) to participate in this research project.

Participation involves each subject completing a confidential questionnaire and providing a saliva sample. If possible, and with the express approval of the subject, a second saliva sample may be requested from the subject’s parents. Collection packets will be shipped to any location without expense to participants, and participants will be compensated for their time.


Eric Vilain, M.D., Ph.D.
Director, Center for Gender-Based Biology
Professor of Human Genetics, Pediatrics and Urology
David Geffen School of Medicine at UCLA
Gonda Center, Room 5506
695 Charles Young Drive South
Los Angeles, CA 90095-7088


Phone: (310) 267-2455
Fax: (310) 794-5446

Email: Dr. Eric Vilain, Director

Deadline: Open

Psychological and Motor Effects of Testosterone Therapy in Adolescents

Dr. Nicole Tartaglia, a pediatrician at The Children’s Hospital in Denver, is conducting a study in adolescent and young adult males with 47XXY, 48XXXY, 48XXYY, and 49XXXXY on the psychological and motor effects of testosterone therapy during puberty. Males who are beginning testosterone therapy will be evaluated to determine changes in learning, behavior, emotions, and motor skills before and after testosterone therapy. The study will also evaluate genetic factors that influence the features of the X and Y chromosome variations, and how genetic factors may influence the response to testosterone therapy. The study is recruiting adolescent males with 47XXY, 48XXXY, 48XXYY, and 49XXXXY who are starting on testosterone therapy. Assessments will be made before each adolescent begins therapy, and then again one year after therapy was begun.

During the year, families and patients will complete behavioral questionnaires at 3 and 6 month intervals. Testosterone replacement can be prescribed by the clinic, or by an outside endocrinologist (as long as it is possible to obtain medical records). Blood draws will also be required as part of the study to conduct genetic studies, to measure testosterone and LH levels. Children with received a $10 gift card for each study visit. Assessments will take place at Children’s Hospital.


Susan Howell, Clinic Coordinator
University of Colorado at Denver
Health Sciences Center
Child Development Unit
13123 East 16th Avenue, B140
Aurora, CO 80045


Phone: (720) 777-8361

Email: Susan Howell, Clinic Coordinator

Deadline: Open

Cognitive, Physical, and Genetic Aspects of Klinefelter Syndrome and 47,XYY
Description: Dr. Judith Ross, a pediatric endocrinologist at Thomas Jefferson University in Philadelphia, and Dr. Andrew Zinn, a geneticist from the University of Texas Southwestern Medical School, are currently recruiting subjects for a study focusing on children and adolescents with an extra X (47,XXY) or Y chromosome (47,XYY). The overall goal of this study is to learn more about the physical, learning, and genetic aspects of Klinefelter’s syndrome and 47,XYY. The study seeks to determine how chromosome variations influence the way boys and men with 47,XXY and 47,XYY grow and learn. The study is free, including travel and hotel, and a detailed summary of the learning evaluation will be sent to the participating families. Boys ages 4-19 years are eligible.

Judith L. Ross, M.D.
Professor, Department of Pediatrics
Thomas Jefferson University
833 Chestnut Street, Suite 1210
Philadelphia, PA 19104


Phone: (215) 955-1648
Facsimile: (215) 955-1744

Email: Dr. Judith Ross

Deadline: Open

Educational Needs Assessment of Women and Young Women with Trisomy X and Their Parents

THIS STUDY IS COMPLETED.  A summary report and the educational booklet are below.

Excerpt from the Original Announcement:  We invite you to participate in a research study that is being done by AXYS in conjunction with Kathleen Erskine, a graduate student in the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College. The purpose of this study to identify the important aspects of 47, XXX/ 3X/ Triple X/ Trisomy X to discuss with girls when they first learn about their Trisomy X diagnosis. The end result of this study will be an educational booklet for parents to give their daughters when they first tell her about Trisomy X.

Summary of the project from the author, Kathleen Erskine
Guide to Trisomy X (booklet)

If you have any questions, please contact Kathleen Erskine at or 914-361-9093.

Copyright 2015 by AXYS