It has just become easier than ever to find research studies that may be relevant to you or your child. Now, instead of searching for potentially relevant studies, you can arrange to have the world's top researchers into these conditions find you...!
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.
One of the greatest challenges researchers face is finding qualified candidates who are willing to participate in clinical studies. Some researchers have resorted to consumer advertising techniques – using radio and TV ads and even billboards to attract subjects. Current hit-and-miss methods are ineffective and a tragic waste of resources. They are a barrier to finding the answers we so desperately need.
KS&A is pioneering a new, far more effective way to break through these barriers and match researchers with individuals who have an interest in clinical study participation. This innovative approach puts your privacy first - where you decide how best to connect with researchers of your choice.
For now we are recruiting participants for XXY only, but soon we will begin recruiting for Trisomy X and XYY.
As we announced in the most recent issue of our newsletter, Even Exchange, KS&A launched its first-ever partnership between a nonprofit organization and Private Access, Inc.—a partnership that will revolutionize our ability to connect researchers with individuals who are willing to participate as research subjects. PrivateAccess™ is a web-based application that gives individuals the ability to share information about themselves while providing unprecedented privacy and security. Meanwhile, researchers may use a companion application called RecruitSourceTM, a tool that allows them to find prospective candidates through a “blind,” secure connection to “de-identified” candidates.
Thanks to all who have already participated in this project, and logged onto KS&A’s website to establish their PrivateAccess™ accounts. As an incentive to do so, those who completed the user survey at the end of the registration process by November 20th became eligible to participate in a raffle to win one of two new 32GB iPod touches. One has been claimed. The other has not. The winning Claim Code is:
NY197486
All raffle participants were presented with a “congratulations” page, where your Claim Code and Confirmation Code were prominently displayed. Please refer to your printed version of that page to find out if you have the winning number. If you do hold this Claim Code, simply contact Kathi Henry at 949-502-7890 x101, or by email at (JavaScript must be enabled to view this email address). Private Access will ship your new iPod touch MP3 player to you immediately. Be aware that you need to claim your prize by January 11, 2010. (In the absence of a response by that date, we will draw a new Claim Code.) Congratulations to our winners!
Early experience with the Private Access technology has been remarkably successful, already transforming the way researchers are able to connect with individuals who are willing to contribute their time and energy to expand knowledge about X and Y chromosome variations.
All members of our XXY community are now strongly encouraged to participate, and Private Access, Inc. has made it even more compelling for you to do so. (Remember that members of the Trisomy X and XYY communities will be invited to join in soon.)
Call to Action
The PrivateAccess™ application is available directly within the KS&A website. Once there, you can safely, privately raise your hand as having general interest in research or a particular trial that may be meaningful. Then we’ll do the work and help top researchers studying Klinefelter syndrome find you. And here’s the best part. You can do this in a way that absolutely protects your privacy. Only the researchers you designate will have access to any of your information.
Are you ready to help? Click on an “I’m Interested” button (or “General Interest”): choose the one associated with general research, or for a specific study. This will connect you to the PrivateAccess™ application, where you’ll register by setting privacy directives - granting private access to researchers as you feel appropriate - and answering a confidential medical history questionnaire. The whole process takes about 15 minutes.
Once your information is in the system, researchers - only the ones with private access - can view your anonymous health information and, only if you agree, contact you for study participation. Whether you elect to participate in a study is entirely up to you. So sign up now to view more information regarding clinical research and to register at PrivateAccess™.
We also encourage you to provide us your feedback by taking a short survey at the end of the registration process. There are two more 32GB iPod touches® available to win! If you take the survey by January 31, 2010, you’ll be entered in the new raffle!
As you can see, by registering at PrivateAccess™, you’ll be making a tremendous contribution to the Knowledge, Support and Action that binds all of us together for a common purpose at KS&A. You’ll also be pleased to know that, for a limited time, Private Access, Inc. will make a donation to KS&A when you sign up. This is a wonderful way to support our organization and mission.
The collaboration with Private Access is a significant milestone in KS&A’s efforts to better serve individuals with 47,XXY and/or Klinefelter syndrome, and our community of committed researchers. If you have any questions, please contact Kathi Henry by phone at (949) 502-7890, Ext. 101, or by email at (JavaScript must be enabled to view this email address).
Whether you select this method or the one described below, the private access rights you grant in PrivateAccess™; make it easy and safe for you to hear about studies that might be relevant to you or your child. It’s totally free to you. You can change your privacy settings at any time, and whether you elect to participate in any study is totally up to you.
For questions, or if you have any problems in using these systems, please contact Private Access at (888) 917-7482.
Individual Research Studies Now Recruiting
Alternatively, you can review a list of research studies that are currently recruiting and decide which ones sound most interesting to you. This list is updated regularly, as new studies are added and older ones are filled. Once you see one that you think might be of interest, simply click on the “I’m Interested” button associated with that study to take you to PrivateAccess™, where you’ll be able to let this researcher know that you’re interested. You decide whether to tell the researcher your name or not, and your answers in the confidential health questionnaire will give them the basis to decide how well you might fit into their research. As an added convenience, you will also be able to decide if you would like any other researchers to be able to know about your interest in potentially relevant research. It’s totally up to you to decide how much you tell them, and who can find this information.
Below is a list of research studies that KS&A is aware are currently recruiting:
TRISOMY X SURVEY ANNOUNCEMENT
Description:
Educational Needs Assessment of Women and Young Women with Trisomy X and Their Parents: Creation of Materials for Girls and Young Women First Learning about Their Trisomy X Diagnosis
We invite you to participate in a research study that is being done by KS&A 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.
This survey is open to:
- parents who have told their daughters about their Trisomy X diagnosis
- parents who have not yet told their daughters about Trisomy X
- Women who have Trisomy X and are over the age of 18
- Young women who have Trisomy X and are between the ages of 14 and 17 (with parental permission)
The survey should take approximately 30-40 minutes to complete and will ask questions about specific aspects of Trisomy X that may be included in the first discussion about Trisomy X as well as some questions about your experiences or concerns regarding this first Trisomy X discussion. The survey will be done online and is anonymous. We will not ask for your name or other personal identifiers and will not be able to link you to your responses.
Your participation is entirely voluntary and you will not be paid for completing the survey.
If you are a parent who has told your daughter about her Trisomy X diagnosis, please click here to learn more about the survey and to participate: http://www.surveymonkey.com/s/MVLSF5B
If you are a parent who has not yet told your daughter about Trisomy X, please click here to learn more about the survey and to participate: http://www.surveymonkey.com/s/MVBZ9DL
If you yourself have Trisomy X and are over 18 years of age, please click here to learn more about the survey and to participate: http://www.surveymonkey.com/s/M7XVHZF
In order to assure that teens aged 14-17 have parental consent to complete the survey, access to their survey requires a password. If you are a parent and have a daughter with Trisomy X who is between 14-17 years old and who may want to participate in the survey, please contact Kathleen Erskine at (JavaScript must be enabled to view this email address) or 914-361-9093 for the web address and password for the survey. After this communication, any voicemails or email communication will be deleted and will not be tied to your daughter’s responses.
Thank you for your time and interest!
If you have any questions, please contact Kathleen Erskine at (JavaScript must be enabled to view this email address) or 914-361-9093.
NIH Klinefelter Syndrome / Sex Chromosome Variations Study
Description:
Dr. Jay Giedd, a Child and Adolescent Psychiatrist and developmental neuroscientist at the National Institutes of Health (NIH), is the principal investigator on this study involving the use of magnetic resonance imaging (MRI) to study the effects of sex chromosomes on brain development. Dr. Giedd and his staff are continuing to recruit subjects with a sex chromosome variations, and are currently focusing on individuals who are 48,XXYY; 48,XXXY; 48,XXXX; 49,XXXXY and 49,XXXXX between the ages of 5 and 25.
Participation involves coming to the NIH in Bethesda, Maryland (just outside of Washington D.C.) for a one-day visit (on Tuesdays). Flights and hotel accommodation for 2 nights (Monday through Wednesday) are provided.
For more information, please download the document linked here.
Contact:
Jonathan Blumenthal, MA
Project Coordinator
NIMH Child Psychiatry Branch
Building 10, Room 4C110
Bethesda, MD 202892-1367
Phone: (301) 435-4516
Facsimile: (301) 480-8898
Email: (JavaScript must be enabled to view this email address)
Description:
The National Institutes of Health (NIH) and Johns Hopkins University Bloomberg School of Public Health are sponsoring a study that seeks to learn more about how adolescents and adults with Klinefelter syndrome (XXY) think and feel about living with XXY. The sponsors hope that learning more about the experiences of people living with XXY will improve the health care and counseling for individuals with XXY. Individuals with Klinefelter syndrome (47,XXY) who are 14 years or older are needed to take part in this study. Participation involves one survey that requires 30-40 minutes to finish. The survey can be taken online or a paper copy can be mailed to you. For additional information, parents of an XXY adolescent between the ages of 14 and 17 may view the Notice for Parents disclosure for more information about this study. Adults with Klinefelter syndrome who are 18 years of age or older may view additional information about the study by reviewing the Notice to Participants.
Contact:
Amy Turriff, BS, Associate Investigator
Barbara Biesecker, MS, Principal Investigator
National Human Genome Research Institute
National Institutes of Health
Building 31, Room B1B36C
31 Center Drive MSC 2073
Bethesda, MD 20892-2073
Phone: (301) 443-2634
Email: (JavaScript must be enabled to view this email address)
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.
Contact:
Judith L. Ross, M.D.
Professor, Department of Pediatrics
Thomas Jefferson University
1025 Walnut St., Suite 726
Philadelphia, PA 19107
Phone: (215) 955-1648
Facsimile: (215) 955-1744
Email: (JavaScript must be enabled to view this email address)
Description:
Dr. Judith Ross (see above description) is also currently recruiting subjects for an NIH-funded research study involving the use of physiologic doses of androgen replacement in 47,XXY boys between the ages of 4 and 12. The purpose of this placebo-controlled study is to learn how treatment with oral testosterone will impact on cognitive and behavioral characteristics, brain structure and function in boys with XXY. Participation involves an interview, blood test, comprehensive psychological and cognitive evaluation, comprehensive physical examination, and evaluation of sensory and motor function. Parents will receive a report summarizing these findings. The study is free to research subjects, will take place in Philadelphia, and includes transportation and hotel costs.
Contact:
Judith L. Ross, M.D.
Professor, Department of Pediatrics
Thomas Jefferson University
1025 Walnut St., Suite 726
Philadelphia, PA 19107
Phone: (215) 955-1648
Facsimile: (215) 955-1744
Email: (JavaScript must be enabled to view this email address)
Psychological and Motor Effects of Testosterone Therapy in Adolescents
Description:
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.
Contact:
Susan Howell, Clinic Coordinator
University of Colorado at Denver
Health Sciences Center
Child Development Unit
The Children’s Hospital
13123 East 16th Avenue, B140
Aurora, CO 80045
Phone: (720) 777-8361
Email: (JavaScript must be enabled to view this email address)
UCLA Study Concerning the Effect of the X-Chromosome on Determining Sexual Orientation
Description:
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.
Contact:
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
Facsimile: (310) 794-5446
Email: (JavaScript must be enabled to view this email address)
CUMC Cohort Study of boys between the ages of 8 and 17 years
Description:
Dr. Ilene Fennoy and Sharron Close, a pediatric nurse practitioner at Columbia University Medical Center (CUMC) in New York, are currently enrolling XXY boys between the ages of 8 and 17 years for a study on physical traits, hormones, metabolic/bone and psychosocial health characteristics during the peri-pubertal years. The purpose of the cohort study is to describe how XXY boys develop through puberty in order to identify patterns of physical and psychosocial health characteristics of Klinefelter syndrome. This background will provide foundational information that may help clinicians decide how and when to begin testosterone therapy in the future.
The study will involve three (3) annual visits over 3 years that will involve approximately 3 hours of you and your son’s time. Every eligible boy who participates will be compensated with a $25 American Express Gift card for each visit. Breakfast will be provided and parking will be paid by the study.
Contact:
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: (JavaScript must be enabled to view this email address)
How to Post Information About Other Studies to Our Website
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 KS&A serves, we would be happy to post information concerning your research on our website. Click here for more information.
Published on Jul 30, 2009 at 12:48 PM Last updated on Jan 11, 2010 at 09:06 PM
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Disclaimer: The information presented on this site is not intended as a substitute for professional medical advice. Don't use this information to diagnose or develop a treatment plan for a health problem, disease or condition without consulting a qualified health care provider. If you are in a life-threatening or emergency medical situation, seek medical assistance.