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The beginnings of CDKL5
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Natural History Study

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Natural History Study

1/1/2017 — 12/31/2019

Natural History Sites Now Enrolling!
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 disordersThis 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. 


NHS 1        NHS 2 


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]. 




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! 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 programsWell-conducted studies of natural history can yield vital information about:? 

• Biomarkers, demographic, genetic, and environmental variables that correlate with the course 

and stages of the disease; 

• Identification of patient subpopulations with different characteristics and effects of the 


• Patient perspectives on what aspects of disease are most important to treat; and, 

• How to quantify those aspects so that they can serve as useful outcome measures for clinical?trials. 


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.” (blogexcerpt 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: Dawn Lischke-Redmond
Telephone: 615-875-9311


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

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