Natural History Study

I would like to let you know about a new study for Angelman Syndrome. The “Angelman Syndrome Natural History Study” is an observational study. This means we are collecting information but there is no treatment involved. The goal is to help scientists and physicians gain a better understanding of Angelman Syndrome (AS).

Participants will be followed for 5 years. There will be six study visits, occurring each year at around the same time. Each visit will last about a day and a half. Visits will include review of the participant’s history and medications, physical examination, nutritional and neurodevelopmental evaluation, pictures, EEG (brain wave measurement), MRI scan (special images of the brain) and laboratory tests (including genetic testing).

The risks associated with taking part in this study include: 1) possible loss of confidentiality (confidentiality will be protected to the full extent required by law); 2) discomfort and slight risk of infection associated with blood draws; 3) possible reaction to sedation medication if needed for the MRI; 4) other events that cannot be anticipated or predicted.

There is no direct benefit for taking part in this study. However, emotional satisfaction may be gained from contributing to the knowledge of AS. The scientific community will benefit through increased understanding of AS. The knowledge that is gained may contribute to the development of new treatments or better ways to care for individuals with Angelman Syndrome.

Taking part in this study is voluntary. If you choose to let your child take part, you may choose to leave the study at any time. Your decision will not result in any penalty or loss of benefits to which your child is entitled.

If you would like more information about this study please contact:

Boston Study: Dr. Wen Hann Tan Children's Hospital Boston Division of Genetics 300 Longwood Ave Boston, MA 02115 Telephone: 617-355-4697 Contact Person: Janice Lawrence, MS	San Diego Study: Lynne M. Bird, MD Dysmorphology/Genetics, Children's Hospital, San Diego 3020 Children's Way #5031 San Diego, CA 92123 Telephone: 858-966-5840 Contact Person: Marla Hashiguchi, RN
Houston Study: Carlos Bacino, MD, FACMG Director, Kleberg Genetics Clinic Medical Director, Kleberg Cytogentics Laboratory Associate Professor Department of Molecular and Human Genetics Baylor College of Medicine Texas Children's Hospital Clinical Care Center 6701 Fannin, Suite 1560 Houston, TX 77030 Contact Person: Beverly Feldman, RN, MSN Telephone: 832-822-4301 Fax: 832-825-1515	Greenwood Genetic Center Steve Skinner, MD Director of Clinical Services Greenwood Genetic Center 1 Gregor Mendel Cr Greenwood, SC 29646 Contact Person: Fran Annese, LMSW Telephone: 864-941-8100
Nashville Study: Vanderbilt University Medical Center Nashville, Tennessee Principal Investigator: Marshall Summar, MD Contact Person: Terry Jo Bichell Telephone: 615-322-8093

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