15q Duplication Syndrome Registry

A new national registry for chromosome 15q Duplication Syndrome (Dup 15q) launched recently at Le Bonheur Children’s Hospital. The national registry constructed and maintained here in Memphis with the assistance of Children’s Foundation Research Institute Technical Director Tee Viangteeravat, PhD, is designed to capture data from consortium clinics associated with the Dup15q Alliance (www.dup15q.org) across the United States.

The database will be used to gather clinical data, including behavior and seizure history data collected through surveys from family members. One eventual goal is for researchers to conduct multi-site studies to develop better treatments for the 15q Duplication syndrome and facilitate clinical trials.

Dup15q syndrome is caused by various duplications of chromosome 15q. Duplications that are maternal in origin often result in developmental problems including autism. Large duplications on 15q, including individuals with the isodicentric 15q duplications, involves a wide range of developmental disabilities including autism spectrum disorders; motor, cognitive and speech/language delays; digestive issues and seizure disorder. Information gathered from the clinics will inform and further refine already available treatments and therapies for 15q Duplication syndrome.

Lawrence T. Reiter, PhD, serves as the principle investigator of the database and director of the Memphis clinic site. Reiter says he has hopes for the discoveries and improved treatment protocols that will be made with information from the database.

“The No. 1 priority for this particular group of kids is better seizure management. By working across multiple sites, we hope to have a better handle on what medications work best for these kids,” Reiter said.

Le Bonheur is home to one of a handful of Duplication 15q11 clinics across the country.

“Our comprehensive multidisciplinary team collaborates on finding the best care for every child. By collecting information in a systematic manner, we’ll be better able to develop targeted treatments,” said Kathryn McVicar, MD, Dup 15q clinic medical director.

Dup15q clinics contributing to this national registry:

• Massachusetts General Hospital – Boston, Mass.
• NYU Langone Medical Center – New York, N.Y.
• Geisinger Health System – Lewisburg, Pa.
• Miami Children’s Hospital and Miami Children’s Hospital Dan Marino Center – Miami, Fla.
• Minnesota Epilepsy Group – St. Paul, Minn.
• University of Tennessee Health Science Center and Le Bonheur Children’s Hospital – Memphis, Tenn.
• Pediatric Neuroscience Center at Swedish Neuroscience Institute – Seattle, Wash.
• University of California San Francisco – San Francisco, Calif.
• University of California Los Angeles – Los Angeles, Calif.