Current Studies and Clinical Trials

CALL TO RESEARCHERS

In February, 2008, KS&A convened a Scientific Advisory Conference in Dallas. The researchers in attendance developed a list of nine recommendations for KS&A. One of these suggestions was to provide direct funding support for research.

We are proud to announce that KS&A is inviting research proposals for up to three research initiatives-one for each of the conditions we serve: XXY, Trisomy X and XYY.
These are small “pilot studies,” but we are confident they will have a big impact.

Ilene Fennoy, MD, MPH, said, “This will be the first time that KS&A has actively solicited research proposals and selected among them through an RFP process.” Dr. Fennoy, who is on the board of directors of KS&A and chairs KS&A’s Research Committee, added, “More research is vital to understanding X and Y chromosome variations and to building interest in these conditions among the larger medical community.”

If you or your colleagues are interested in submitting a proposal, the RFP announcement is available in PDF format at this link.
http://www.genetic.org/images/uploads/Seed_Grant_RFP_-_KSA_2009.pdf

Download Adobe® Reader®

Introduction

KS&A does not endorse nor recommend any particular research study or clinical trial. Patients should discuss all options with their health care providers and family members before beginning any study or clinical trial.

Many people think that participating in a research study or clinical trial means they will get better treatment for their condition. While this may be true, it’s also important to remember that such studies and clinical trials are conducted for research purposes, and does not ensure better or safer treatment.

Taking part in a research study or clinical trial does not guarantee individual benefits to the participant in the form of newer or safer treatment. The contribution made by participating in a such a study or in a clinical trial is to science first, and to the patient second.

KS&A, its Scientific Advisory Committee members, Board of Directors members, executive officers, staff and advisors do not endorse or recommend the use of any specific treatment or medication. For advice about specific treatment or medication, patients (or in the case of minors, an adult family member on the patient’s behalf) should consult their physicians and/or health professionals.

Cognitive and General Characterization-Related Studies

• 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
  (JavaScript must be enabled to view this email address)
  Deadline: Open

Hormone Related Studies

• Early Androgen Treatment in 47,XXY
  Description:
  Dr. Judith Ross, a pediatric endocrinologist at Thomas Jefferson University in Philadelphia is currently recruiting subjects for a study involving the use of physiologic doses of androgen replacement in 47,XXY boys between the ages of 4 and 12. 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
  (JavaScript must be enabled to view this email address)
  Deadline: Open

Neurocognitive Related Studies

• 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 and is continuing to recruit subjects with a sex chromosome variation (XXY, XYY, XXYY, XXXY, XXXXY, XXX, XXXX, XXXXX) between the ages of 5 and 25 for a study involving the use of magnetic resonance imaging (MRI) to study of the effects of sex chromosomes on brain development. Participation involves coming to the NIH in Bethesda, Maryland (just outside of Washington D.C.) for a one-day visit (Tuesdays).  Flights and hotel accommodation for 2 nights (Monday through Wednesday) are provided. 
  Contact:
  (JavaScript must be enabled to view this email address)
  Project Coordinator, NIH Klinefelter Syndrome Study
  Trial Web page: Klinefelter Syndrome (KS) and other Sex Chromosome Variations (SCV)
  Deadline: Open

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.