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)

Study funded for 5 more years

In October, 2014 a co-operative agreement was announced to fund research for the Natural History Study, a Research Consortium, to be led by Dr. Alan Percy University of Alabama at Birmingham.


Press Release
NIH's ORDR-NCATS RDCRN and NICHD Awards a U54 Cooperative Agreement for Natural History Study Invests $65,000 to Support Three Additional Sites for the Natural History Study 


On our blog
The NIH Funded Natural History Study
Power of Data Collected from the Natural History Study


What is the role of 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.


NHS 1        NHS 2 



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

New York

University of Rochester


Cincinnati Children's Hospital Medical Center


Cleveland Clinic

*enrolling CDKL5 patients


Children's Hospital of Philadelphia

South Carolina

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