Enroll now for the Natural History Study

The NIH funded Natural History Study has been in the works for several years. In October 2014 a co-operative agreement was announced to fund research for the study with the Research Consortium to be led by Dr. Alan Percy University of Alabama at Birmingham. The study is funded for 5 years and includes Rett Syndrome, MECP2 Duplication, and Rett-related Disorders (CDKL5 and FoxG1). There are 15 sites in total and all the planning was finally put into action here locally, when enrollment started this summer at the Children’s Hospital in Colorado. Dr. Tim Benke, Rett Clinic Medical Director, is local PI for this study.

The objective is to gather as much data as possible about children and adults with Rett Syndrome and Rett-related disorders. This data includes information about nutrition, development, height & weight measurements and biomarkers. Biomarkers to be collected include EEG/Evoked potentials, genetic and metabolic changes. This historical and physical examination data will stimulate more clinical research and better prepare us for future clinical trials. Biomarkers are a critical, objective measurement for determining effectiveness of clinical trials. Patients are to be seen regularly during the study.

As Janet Woodcock, M.D., Director of FDA’s Center for Drug Evaluation and Research (CDER) puts it:

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.


In detail, the project will investigate in Rett syndrome, MECP2 Duplication disorder, CDKL5 disorder, and FOXG1 syndrome:

  • longitudinal natural history
  • neuro-behavioral assessments
  • biomarkers
    • EEG/Evoked potentials (an EEG test)
    • Genetic and metabolic (a blood test)
  • outcome measures

Healthy controls (all ages) will also be needed for biomarker studies.


We would appreciate if you consider becoming part of this study! If you are interested, contact: Gina VanderVeen, Phone: 720-777-5514, Email: Gina.VanderVeen@childrenscolorado.org