Participate in the Natural History Study

Thanks to the Rett community at large, the second rendition of the Natural History Study is underway at 15 sites around the US!  But we still continue to push for more participation in this critical study that seeks girls and boys of all ages with Rett syndrome (classical or atypical), MECP2 Duplication, or related disorders that involve mutations in CDKL5, FoxG1, and other MeCP2 mutations that don’t fulfill the consensus criteria for Rett syndrome.

Rett Natural History

The Rett Natural History Study (NHS) is seeking to better understand Rett syndrome, MECP2-duplication disorder, and Rett-related disorders. As an observational study lasting for five years, the NHS allows for longitudinal information to be collected to better characterize the course of these disorders. Organized by the Rett Consortium, this study is being conducted at institutions throughout the country and is open to individuals of all ages who have these disorders. We are seeking to enroll 1500 individuals, with about 100 having Rett syndrome.

Participants will have an examination performed by a physician and study staff at each visit. There are also multiple questionnaires which broadly cover topics related to the patient’s condition and quality of life. Additionally, the study requests medical records related to the participant’s condition, which includes genetic testing results. In collecting this information, the study attempts to better characterize the natural history of these disorders and add to our understanding of the factors involved.

For more information related to this study, please contact Gina VanderVeen, the University of Colorado study coordinator by email (click on her name) or by phone at 720-777-5514.

For more information about the study, go to: https://www.rettsyndrome.org/research/clinical-trials/natural-history-study