Rett Syndrome, MECP2 Duplication, and Rett-related Disorders Natural History Study
What is the Natural History Study?
The objective is to gather as much data as possible about children and adults with Rett syndrome. This data includes information about nutrition, development, and height & weight measurements. This historical and physical examination data will stimulate more clinical research and better prepare us for future clinical trials.
"Knowledge of natural history is essential for developing more efficient clinical trial designs. It also could help reduce the length and cost of drug development and, possibly, contribute toward greater predictability of clinical development programs."
-Janet Woodcock, M.D., Director of FDA's Center for Drug Evaluation and Research (CDER)
What is the role of Rettsyndrome.org?
Rettsyndrome.org will take a central role in this endeavor as a member of the Coalition of Patient Advocacy Groups (CPAGs) within the Rare Diseases Clinical Research Network (RDCRN), and as administrative partner of this 5-year cooperative agreement.
Should I Participate in the Rett Natural History Study?
5 Compelling Reasons [PDF]
One families experience participating in the Natural History Study
“How a Mom, a Scientist, and NICHD Joined to Fight a Rare Disease”
How to participate
In order to participate in a study, you must personally contact the study coordinator of any of the participating institutions by phone or by e-mail. *All 15 sites are now enrolling. Click on the following link for all the participating sites. https://www.rarediseasesnetwork.org/cms/rett/Learn-More/Participating-Centers
University of Alabama, Birmingham
University of California, San Diego
UCSF Benioff Children's Hospital of Oakland
University of Colorado, Denver
Rush Medical Center, Chicago
Boston Children's Hospital
Gillette Children's Specialty Healthcare, St. Paul
Washington University, St. Louis
University of Rochester
Cincinnati Children's Hospital Medical Center
*enrolling CDKL5 patients
Children's Hospital of Philadelphia
Greenwood Genetic Center, Greenwood
Vanderbilt University, Nashville
Baylor College of Medicine, Houston
Natural History Study Research Publications
2007-2014 - Utilized clinical data collected by the Natural History Study of Rett syndrome.
We are grateful for the commitment of our physician research community and the NIH
Daniel Glaze MD, Baylor College of Medicine, PI, John Killian MD, Jeffrey Neul MD PhD, UCSD, Alan Percy MD, lead PI, UAB, Steven Skinner, MD, Greenwood Genetics Center, Kathleen J. Motil MD PhD, PI Baylor College of Medicie