Any girl or woman who tests positive for the MECP2 mutation is eligible to participate in this study. The treatment protocol is based on the MECP2 genetic defect. Many clinical symptoms will be evaluated including growth parameters and a motor evaluation. Blood will be collected for metabolic and methylation studies, and to evaluate levels of treatment medications. All but the one month evaluation will require an overnight stay in the Texas Children's Hospital General Clinic Research Center.
Parents can stay with their daughters.
The studies will be completed during a 24-48 hour period. The protocol will be periodically reevaluated from the standpoint of side effects and response. If one group shows a dramatic progress over the other, a decision may be made to break the code earlier than anticipated. If you have further questions or wish to enroll your child in the study, please call the Blue Bird Circle Rett Center at Baylor College of Medicine. The gift of hope Autopsy, the ultimate gift of hope, will help increase understanding about the most detailed functions of the brain in Rett syndrome.