Submitted by Alicia Sullivan

Email Contact: asullivan@hrw.com

Purpose of the Study
         The main purpose of this nutritional study is to determine if your child has metabolic imbalances that could be addressed by nutritional supplementation and research a Targeted Nutritional Intervention (TNI)* for RTS.

Summary
        Rubinstein-Taybi Syndrome (RTS) is a genetic syndrome characterized by facial abnormalities, broad thumbs, broad toes, developmental delays and other abnormalities. It is speculated to be caused by mutations in the gene that makes CREB binding protein (CBP). CBP is a protein that is thought to play a critical role in intracellular function.

The CBP mutations disrupt the ability for some cells to function normally, possibly creating metabolic disturbances. This could account for some of the symptoms of RTS, such as mental retardation.

Three Goals of the Study
       

First Goal -  The first Goal of this study is to get blood and urine analysis for RTS individuals to see if they have metabolic disturbances that could be addressed by nutritional supplementation. If the metabolic testing reveals metabolic imbalances, then.....

Second Goal -  The second goal of this study is to compare all the participants metabolic test results to see if RTS individuals have similar imbalances in essential nutrients. If similarities are noted among RTS participants, then.....

Third Goal -  The third goal in this study is to use the data from the participants metabolic test results and create a base nutritional formula or TNI Therapy for RTS individuals to add to their regiment of therapies for an overall approach to the syndrome.

For more information on Targeted Nutritional Intervention research, visit this web site http://members.aol.com/TheRagans/

Study facilitators

Alicia Sullivan is the person organizing this study. She's been researching for possible therapies that might help alleviate the symptoms of the syndrome since her son was born three years ago. He was diagnosed at birth with RTS (2-21-95).

Lawrence G. Leichtman, M.D. FAAP, FACMG is a Board Certified Pediatrician and Clinical Geneticist. He is the founder of the American College of Medical Genetics, member of the Scientific Advisory Committee for TRI and a supporter of targeted nutritional intervention. Dr. Leichtman is one of the scientists involved in the creation and clinical studies being done for the current nutritional formula taken by Down Syndrome individuals. He has also created custom formulas for other disorders. Dr. Leichtman is not charging for his services in this study. If you would like more information about Dr. Leichtman, visit his web page atwww.exis.net/leichtman/index.html

David H. Swenson, PhD is the H. H. Dow Professor of Chemistry at Saginaw Valley State University. Dr. Swenson is also a supporter of targeted nutritional intervention. He is also one of the scientists involved in the creation and clinical studies being done for the current nutritional formula taken by Down Syndrome individuals. He works with Dr. Leichtman putting together presentations on targeted nutritional intervention. Dr. Swenson is donating his services for our cause. If you would like more information on Dr. Swenson, visit his web page atwww.svsu.edu/~swenson/

James Heffley, PhD is Alicia's trusted nutritionist. He has over 25 years of experience in biochemistry and the nutrition field. He is the director of Nutrition Counseling Service, a business designed to help people achieve optimal health through optimal nutrition. Using a thorough assessment process, Dr. Heffley determines each person?s unique nutritional requirements, and designs a supplement and diet program to meet those needs. Dr. Heffley has graciously provided the worksheets from his nutritional counseling business for us to gather the health information on the participants.

Once the participants test results come back, Dr, Swenson and Dr. Leichtman will research to determine if a base nutritional formula can be created. Dr. Leichtman will be the Doctor who will design a supplementation program for the participants who wish to begin supplementing now based on the participants test results. For more information about supplementation and this nutrition study, contact Alicia Sullivan at (512) 443-1781. Or email her at asullivan@hrw.com

Laboratory Selected

MetaMetrix Lab is the laboratory the blood and urine will be sent to for the complete metabolic testing. For information on MetaMetrix and the metabolic testing, see information enclosed. The cost for these tests will be at no expense to you, The Special Friends Foundaton will cover the costs of the testing.

Acknowledgements

The Special Friends Foundation is the first non-profit organization for RTS. The Foundation was established byChris Garavente, himself a parent of an RTS child. The Special Friends Foundation will be covering most of the expenses for the nutrition study. Without the foundation?s support, this study would not be.

If you would like to obtain more information or wish to volunteer for the Special Friends Foundation, write to Chris Garavente at: 120 Shawnee Path, Millington, New Jersey 07946. or email him at garavente@erols.com

Lorrie Baxter, Coordinator of the RTS Parent Group, USA who has provided the current mailing list and is helping inform interested parents of this study. Contact Lorrie atlbaxter@ruraltel.net for information on becoming a member of an RTS Support Group. Also contact her for information on how to document your child through Dr. Rubinstein.

Lisa McRorie-Harvey for helping distribute information about this study to the parents in Canada.

Gary Lawrence, also a parent of an RTS child, for his encouragement and support in getting this study off the ground. And to all the volunteers and participants now and in the future who help to make this study a success!