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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.
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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
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| Evaluating the Effect of X/Y Chromosome on Immune System Health
| Description: |
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 https://ctq.ctrl.ucla.edu/ctq/login/ or paper version. We request that participants also provide a blood sample – that can be collected by coming to UCLA, at KS&A meetings, or by shipping collection packets to any location without expense to participants.
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| Contact: |
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
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Email: uclastudies@yahoo.com
Phone: (310) 206-1883
Alternative Emails: ROkorogu@mednet.ucla.edu
EYen@mednet.ucla.edu
Fax: (310) 206-8606
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| Deadline: |
Open |
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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
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| Blood samples from pregnant women carrying a fetus with a sex chromosome abnormality are needed!
| Description: |
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.
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| Contact: |
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Call research at Natera at 877-476-4743 X 446 or email at research@natera.com if interested.
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| Deadline: |
Open |
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| EFFECTS OF TESTOSTERONE THERAPY IN YOUNG ADOLESCENTS WITH KLINEFELTER SYNDROME (47,XXY)
| Description: |
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). Thirty patients will be treated with testosterone and 20 patients will receive placebo.
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 will be provided.
Assessments are completed as part of the research study, and a summary of research testing results will be provided.
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| Contact: |
Susan Howell, Clinic Coordinator
University of Colorado at Denver
Health Sciences Center
Child Development Unit
13123 East 16th Avenue, B140
Aurora, CO 80045
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Phone: (720) 777-8361
Email: Susan Howell, Clinic Coordinator
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| Deadline: |
Open |
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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 clinicaltrials.gov at:
http://www.clinicaltrials.gov/ct2/show/NCT01585831?term=testosterone+klinefelter+denver&rank=1
Please see for more information.
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| X and Y Chromosome Variation Study - Discussing Diagnosis with your ChildThis is an important study being conducted by a graduate student working in conjunction with the eXtraordinarY Kids Clinic at Children's Hospital in Denver.
Appeal from researcher:
Hello,
I am a Genetic Counseling Graduate Student at the University of Colorado Denver. My Capstone Research Project aims to develop a brochure for parents who are considering discussing their child’s diagnosis of an X or Y chromosome variation with him or her for the first time. As you may agree, I have found that information and resources regarding this topic are quite limited. It is important that the brochure contain accurate and helpful information for parents. Therefore, I have developed a survey to collect information about real experiences discussing the diagnosis and possibly include this information in the brochure.
If you are a parent of a child with an X or Y chromosome variation, I am interested in learning about your experience discussing the diagnosis with your child for the first time.
If you are personally diagnosed with an X or Y chromosome variation, I hope to gather information about your experience learning about your diagnosis.
To participate in my survey, please click on the link below. The survey should take approximately 15-20 minutes of your time. Participation is completely voluntary and anonymous.
Click link for survey: http://j.mp/SzSfeG
Thank you,
Anna Dennis
Genetic Counseling Graduate Student
University of Colorado Denver
Anna.Dennis@ucdenver.edu
303-724-5784
This study has received IRB approval through COMIRB (#12-1091).
It is being conducted under the supervision of Dr. Nicole Tartaglia. |
| Brain Development and Learning Difficulties in Klinefelter Syndrome and Trisomy X/Triple X Syndrome
| Description: |
Volunteers needed for a
Brain and Cognition Research Study
The UC Davis MIND Institute is carrying out a study on the problems that some children have with thinking and reasoning about time, space, numbers and related areas of learning. The study is funded by the National Institutes of Health, which is the main organization that gives money for research in the United States. Dr. Tony Simon would like to invite your 8 to 14-year old child with Klinefelter syndrome or TrisomyX/Triple X syndrome to be part of the study. Many children with Klinefelter syndrome or TrisomyX/Triple X syndrome score lower on language-based tasks compared to visuospatial skills. We are studying the brain and how it produces this kind of thinking. Once we know more, we plan to develop interventions to reduce learning problems in children with certain genetic conditions.
Children who take part in the study will play computer games, do paper and pencil tests, and have pictures taken of their brain using an MRI machine. MRI scans do not involve any
radiation. All of the activities are safe and have been pre-approved by our Institutional Review Board. As part of this clinical research study, IQ achievement testing is carried out and parents
will receive a letter describing the results in the mail a few weeks after completing the study.
Testing can be completed in two sessions of approximately 3 1/2 hours each day (or one full day). After successful completion of this, your child will receive $60 in gift cards to thank them
for their time and effort. If needed, some funds may be available to assist families with travel accommodations to Sacramento, CA. If you would like to find out more about taking part in this
study and helping us learn about mind and brain development in children like your own, please contact one of the clinical research coordinators at the UC Davis MIND Institute.
Click here for printable flyer.
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| Contact: |
The University of California
Davis M.I.N.D. Institute
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Phone: (916) 703-0409
Email: cabil@ucdmc.ucdavis.edu
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| Deadline: |
Open |
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| CCUMC Cohort Study of boys between the ages of 8 and 18 yearsRenewed Call for Study Participants
| Description: |
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: http://www.47xxyklinefelteryouth.com or contact Sharron Close at 914-420-4508 for enrollment or for more information about this research opportunity.
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| 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
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Phone: (914) 420-4508
Email: Sharron Close, Co-Principal Investigator
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| Deadline: |
Open |
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| 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.
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| 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
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Phone: (310) 267-2455
Fax: (310) 794-5446
Email: Dr. Eric Vilain, Director
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| Deadline: |
Open |
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| 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.
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| Contact: |
Susan Howell, Clinic Coordinator
University of Colorado at Denver
Health Sciences Center
Child Development Unit
13123 East 16th Avenue, B140
Aurora, CO 80045
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Phone: (720) 777-8361
Email: Susan Howell, Clinic Coordinator
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| Deadline: |
Open |
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| Early Androgen Treatment in 47,XXY
| 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
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Phone: (215) 955-1648
Facsimile: (215) 955-1744
Email: Dr. Judith Ross
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| Deadline: |
Open |
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| 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
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Phone: (215) 955-1648
Facsimile: (215) 955-1744
Email: Dr. Judith Ross
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| Deadline: |
Open |
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| Educational Needs Assessment of Women and Young Women with Trisomy X and Their Parents
| Description: |
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 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.
Summary of the project from the author, Kathleen Erskine
Guide to Trisomy X (booklet)
If you have any questions, please contact Kathleen Erskine at kerskine@gm.slc.edu or 914-361-9093.
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