CDKL5 Natural History Study

Natural History Sites Now Enrolling!

Jan. 1, 2017 – Dec. 31, 2019

What is the Natural History Study?

The objective is to gather as much data as possible about children and adults with CDKL5, Rett syndrome, and other Rett-related disorders. This award will investigate longitudinal natural history and neurobehavioral assessments, biomarkers, outcome measures, and neurophysiological and neuroimaging correlates of disease severity in CDKL5disorder, Rett syndrome, MECP2 Duplication disorder and FOXG1 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.


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. The Rare Diseases Clinical Research Consortia Supported by NICHD, includes CDKL5 in the Rett and MECP2-Related Disorders Consortium [H3].

Press Release

NIH’s ORDR-NCATS RDCRN and NICHD Awards a U54 Cooperative Agreement for Natural History Study

What is the role of International Foundation for CDKL5 Research?

The International Foundation for CDKL5 Research will take an active role in this endeavor as a member of the Coalition of Patient Advocacy Groups (CPAGs) within the Rare Diseases Clinical Research Network (RDCRN).

Should I Participate in the Rett Natural History Study?

Yes! in  It could also help reduce the length and cost of drug development and, possibly, contribute toward greater predictability of clinical development programs. Well-conducted studies of natural history can yield vital information about:

The FDA is committed to working with patient advocates and other organizations to support natural history studies for rare diseases. We encourage the use of natural history data collection tools to describe natural history for many rare diseases. It is our deeply felt hope and wish that we can then take steps toward developing and approving new therapies for persons with rare diseases.” (blog excerpt 10/23/2014).

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. Please use the information below to inquire about participation. *All 15 sites are now enrolling. See below for contact information.


University of Alabama, Birmingham
Coordinator: Jane Lane, RN, BSN
Telephone: 800-822-2472, ext. 7


University of California, San Diego
Contact: Karen Ditslear
Telephone: 858-966-6458

UCSF Benioff Children’s Hospital of Oakland
Contact: Erica Robertson
Phone: 925-979-4055


University of Colorado, Denver
Contact: Gina VanderVeen
Phone: 720-777-5514


Rush Medical Center, Chicago
Contact: Susan Rohde
Phone: 312-942-0079


Boston Children’s Hospital
Coordinator: Grace Bazin
Telephone: 617-355-5230


Gillette Children’s Specialty Healthcare, St. Paul
Coordinator: Rachel Katoch, CCRC BS
Phone: 651-325-2331


Washington University, St. Louis
Coordinator: Robin Ryther
Phone: 314-454-4267
Email: or

New York

University of Rochester
Contact: Alexander Paciorkowski, MD
Telephone: 585-275-2808


Cincinnati Children’s Hospital Medical Center
Coordinator: Max Mays
Phone: 513-803-7935

Cleveland Clinic
Sumit Parikh, MD
9500 Euclid Ave, S60
Cleveland, OH 44195
Contact: Irys Caristo
Phone: 216-444-1994
*enrolling CDKL5 patients


Children’s Hospital of Philadelphia
Contact: Casey Gorman
Telephone: 267-426-5171

South Carolina

Greenwood Genetic Center, Greenwood
Coordinator: Fran Annese, LMSW
Telephone: 864-941-8100


Vanderbilt University, Nashville
Coordinator: Nicole Thompson
Telephone: 615-343-4586


Baylor College of Medicine, Houston
Coordinator: Jaqueline Soto
Telephone: 832-822-1260