We Need You to 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.  

What is the Natural History Study?

It is a five-year observational study that will involve the collection of information about the clinical features of RTT, MECP2 Dup, and RTT-related disorders, as well as information about quality of life. 

What are the goals of the Natural History Study and Why the Natural History Study Needs Participants?

  • Develop phenotype-genotype correlations in each disorder.
  • Develop through complex neurophysiologic and neuroimaging a better understanding these markers of biologic involvement.
  • Develop a set of biomarkers through metabolic and proteomic studies in blood
  • In Rett syndrome, this will include a more in-depth look at X chromosome inactivation and in other related gene products such
    as BDNF.
  • Develop a set of behavioral outcome measures that will provide important endpoints for planned clinical trials.
  • Set the stage for conduct of translational studies and emerging clinical trials leading to disease modification.

The information you provide will be extremely valuable to the understanding of how Rett syndrome progresses over time.  We know it will be beneficial to research into Rett syndrome and ultimately to those who suffer from this condition.


What can participants expect? 

Physicians and other study personnel will
  • measure the size of your arm and waist,
  • weigh you and measure how tall you are. 
  • record any abnormal muscle movements, if needed
    to monitor over time.

You will be asked:

  • questions about what has changed with your condition since you were last seen. 
  • to complete questionnaires about your condition and about quality of life.
  • to provide medical records that describe your condition, including copies of your gene testing results.


We hope you consider participating in this research study, as the research team is hoping to recruit about 1500 individuals of all ages and genders.  You’ll have a chance to contribute to research that will impact future development of more efficient clinical trial designs and progress toward treatments for Rett syndrome, MECP2 Duplication, and Rett related disorders.


"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 


How to Participate

In order to participate in a study, you must personally contact the study coordinator of any of the participating institutions below by phone or by e-mail.  Click on the following link for all the participating sites.   https://www.rarediseasesnetwork.org/cms/rett/Learn-More/Participating-Centers

University of Alabama at Birmingham

Institution : University of Alabama at Birmingham

  • Principal Investigator : Alan K. Percy, MD
  • Project Manager : Jane Lane, BSN, RN
  • Contact : Jane Lane, BSN, RN
  • Address : 1720 2nd Avenue South, CIRC 320
      Birmingham, AL 35294-0021
  • Phone : (800)-822-2472 ext#7
  • Fax : (205)-975-6330
  • Email : apercy@uab.edu & jlane@uab.edu


 University of California

Institution : University of California, San Diego

  • Principal Investigator : Jeffrey Neul, MD, PhD


UCSF Benioff Children's Hospital of Oakland

Institution : UCSF Benioff Children's Hospital Oakland

  • Principal Investigator : Mary Jones, MD
  • Contact : Erica Robertson
  • Address : 747 52nd Street
      Oakland CA 94609
  • Phone : (925)-979-4055
  • Fax : (925)-979-4059
  • Email : mdjpedidoc@aol.com & ERobertson@mail.cho.org
  • Sub-investigators : Audrey Brumback, MD
School of Medicine Children's Hospital Colorado

Institution : University of Colorado

Principal Investigator : Tim Benke, MD, PhD


Rush University

Institution : Rush University Medical Center

  • Principal Investigator : Peter Heydemann, MD


  • Co-Principal Investigator : Elizabeth Berry-Kravis, MD
  • Address : 1725 West Harrison, Suite 718
    Chicago, IL 60612

    Phone : (312) 942-4036

  • Email : Elizabeth_berry-kravis@rush.edu
  • Contact : Susan Rohde
  • Address : 1725 West Harrison, Suite 718
      Chicago, IL 60612

    Phone : (312) 942-0079

    Fax : (312) 942-4168

  • Email : susan_rohde@rush.edu
Children’s Hospital of Boston

Institution : Children’s Hospital of Boston

Gillette Children’s Specialty Healthcare

Institution : Gillette Children's Specialty Healthcare

  • Contact : Rachel Katoch, CCRC, BS
Washington University School of Medicine St. Louis Children's Hospital

Institution : Washington University School of Medicine and St. Louis Children's Hospital
  • Principal Investigator : Robin Ryther, MD, PhD
  • Address : 660 South Euclid Avenue
      Campus Box 8111, MAT 817
      St. Louis, MO  63110-1093

  • Email : rytherr@neuro.wustl.edu
  • Contact : Olga Novak
  • Address : 660 South Euclid Avenue
      Campus Box 8111, MAT 817
      St. Louis, MO  63110-1093

    Phone : (314) 454-4267

    Fax : (314) 747-6599

  • Email : rettresearch@neuro.wustl.edu
University of Rochester Golisano

Institution : University of Rochester

Principal Investigator : Alexander Paciorkowski, MD


Children's Hospital Of Philadelphia

Institution : Cincinnati Children’s Hospital Medical Center

  • Contact : Max Mays
  • Address : 3333 Burnet Avenue
    Cincinnati, OH 45229

    Phone : 513-803-7935

  • Email : Maxwell.mays@cchmc.org
Cleveland Clinic

Institution : Cleveland Clinic

  • Principal Investigator : Sumit Parikh, M.D.
  • Contact : Irys Caristo

    Address : 9500 Euclid Avenue
    Cleveland, OH 44195

    Phone : 216-444-0173

  • Email : CARISTI@ccf.org
Children's Hospital Of Philadelphia
Institution : Children’s Hospital of Philadelphia
Principal Investigator : Eric Marsh, MD
  • Address : 3615 Civic Center Blvd
      Philadelphia, PA, 19104

    Phone : (215)-590-1719

  • Email : marshe@email.chop.edu
  • Contact : Casey Gorman
  • Address : 3615 Civic Center Blvd
      Philadelphia, PA, 19104

    Phone : (267)-426-5171

  • Email : GormanC@email.chop.edu

Institution : Greenwood Genetic Center
 Principal Investigator : Steven Skinner, MD

  • Contact : Fran Annese

    Address : 101 Gregor Mendel Circle
      Greenwood, SC 29646

    Phone : (864)-941-8100

    Fax : (864)-941-8114

  • Email : fran@ggc.org
Vanderbilt University

Institution : Vanderbilt University

Principal Investigator : Sarika Peters, PhD

  • Contact : Nicole Thompson

    Address : 405A One Magnolia Circle
      Nashville, TN 37212

    Phone : (615)-343-4586

    Fax : (615)-322-8236

    Email : nicole.i.thompson@vanderbilt.edu

  • Sub-investigators : Cary Fu, MD
Baylor College of Medicine

Institution : Baylor College of Medicine

Principal Investigator : Daniel Glaze, MD


How to participate

Natural History Study Research Publications

2007-2014 - Utilized clinical data collected by the Natural History Study of Rett syndrome.