Prader-Willi Syndrome and
Early-onset Morbid Obesity Study

We are recruiting families with a child with Prader-Willi syndrome (PWS) or early-onset childhood morbid obesity (EMO).

The purpose of this study is to collect natural history information on Prader-Willi syndrome and early-onset morbid (severe) obesity to learn more about how these conditions can affect a person throughout his or her life, from birth to adulthood.

The researchers hope the study will help in understanding and improving the treatment of these disorders. Only by studying a large number of patients with a rare disorder can meaningful data be obtained that will help patients.

The research procedure involves a body composition scan, standard psychological testing, blood drawis for DNA and RNA studies, cheek swabs or mouthwash for DNA sampling, physical examination and measurements, a review of medical records and digital photographs.

There are no direct benefits from participation in the study; however, it may help us explain the cause of your child's Prader-Willi syndrome or early-onset obesity; in some cases this may allow for a better description of the syndrome and genetic counseling.

Benefits for society are potentially great if the scientific and health communities gain information about the syndrome's genes, their functions, and the pathogenesis of these conditions.

Participating in the study

Participation involves:

• A blood sample of the subject (approximately 2 small vials) will be collected
• A physical examination performed by Dr. Virginia Kimonis or Dr. June-Anne Gold
• Intelligence testing with the Kaufman Brief Intelligence Test, Second Edition (K-Bit 2)
• Behavior testing with the Behavior Assesment System for Children (BASC)
• DEXA Scan: Dual Energy X-Ray Absorptiometry, a mild x-ray test which looks at fat to muscle compositon and bone mineral density.
• If you choose to participate, you will be asked to provide information about yourself, your children, siblings, grandparents, and possibly other members of your family. This information may include age, ethnic background, health status and the biological relationship between individuals.
• Photographs of the subject may also be taken to study the morphological features of patients.

For more information, contact:

• Claudia Shambaugh
  Clinical Research Coordinator
  949-824-0521
  cshambau@uci.edu

• Virginia Kimonis, MD
  Principal Investigator
  949-824-0571
  vkimonis@uci.edu