Current Studies and Clinical Trials

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
  E-mail:
  Trial Web page: None

  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.

  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
  E-mail:
  Trial Web page: None

  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) in Bethesda, Maryland is the principal investigator and is continuing to recruit 47,XXY subjects between the ages of 4 and 25 for a study involving the use magnetic resonance imaging (MRI) to study of the effects of sex chromosomes on brain development and to help uncover core biological features of X and Y chromosome aneuploidy conditions.

  Families with twins, where one or both children (age 5-25) have a sex chromosome variation (XXY, XYY, XXYY, XXXY, XXXXY, XXX) are also welcome.

  Contact:

  Jonathan Blumenthal
  Project Coordinator, NIH Klinefelter Syndrome Study
  NIMH Child Psychiatry Branch
  Building 10, Room 4C110
  Bethesda, MD 20892-1367

  Phone: (301) 435-4516
  Facsimile: (301) 480-8898
  E-mail:
  Trial Web page: http://intramural.nimh.nih.gov/chp/xxy/index.html

  Deadline: Open

• NIH XYY and XXYY/ Sex Chromosome Variations Study

  Description:

  Jay N. Giedd, M.D., Principal Investigator and Rhoshel Lenroot, M.D., Associate Investigator of The Child Psychiatry Branch of the National Institute of Mental Health are conducting a study of the effects of sex chromosomes on brain development. The goal of this study is to determine whether brain-imaging studies of children with sex chromosome variations will help uncover core biological features of these chromosomal conditions.

  Male participants (5-25 years old) with XYY and XXYY sex chromosome variations are needed to participate in this study. Participation involves coming to the National Institutes of Health (NIH) in Bethesda, Maryland (just outside of Washington D.C.) for a one-day visit (Tuesdays).

  Families with twins, where one or both children (age 5-25) have a sex chromosome variation (XXY, XYY, XXYY, XXXY, XXXXY, XXX) are also welcome.

  For more information, please download the docuemnt linked here, or contact: 

  Jonathan Blumenthal, M.A.
  Project Coordinator
  Phone: 301-435-4516
  Email: 

  Child Psychiatry Branch Website: http://intramural.nimh.nih.gov/chp/xxy

  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.