Rettsyndrome.org Invests $65,000 to Support Three Additional Sites for the NCATS RDCRN Natural History Study, Bringing Total Sites to Fourteen

For Immediate Release – December 22, 2015

Cincinnati, OH – Last year, the NIH National Center for Advancing Translational Science (NCATS) Rare Diseases Clinical Research Network (RDCRN) funded the development of a consortium made up of eleven (11) sites to study the natural history of Rett syndrome, MECP2 Duplication, CDKL5 disorder, and FOXG1 syndrome under their strong belief that collaborative activities are necessary to advance rare disease research.  As a private rare disease foundation, Rettsyndrome.org knows that the benefits of partnering with other organizations dedicated to MECP2 and related disorders research are immeasurable.

From the 2005-2014 RDCRN Rett syndrome, Angelman syndrome and Prader-Willi syndrome Consortium, four clinical sites focused exclusively on Rett syndrome, enrolled over 1,200 participants with Rett syndrome and MECP2 mutations and published more than 20 peer-reviewed papers.  To expand upon the new eleven site initiative, Rettsyndrome.org announces today an additional investment of $65,000 in 2016 to enlarge the Consortium. This will involve the addition of three (3) carefully selected sites, ensuring wider geographical access and allowing greater ease of participation.  The new sites are:

1.    Cincinnati Children’s Hospital Medical Center
2.    Gillette Specialty Healthcare in St. Paul
3.    Washington University School of Medicine and Saint Louis Children's Hospital

This will also expand clinical infrastructure and expertise across the country for our rare disorders.  Collaboration with the related disorders patient advocacy groups, the International Foundation for CDKL5 Research (IFCR), Cure MECP2 Duplication 401 Project, and the International Foundation for FOXG1 (IFF), will help us reach our goals.

Under the leadership of Alan Percy, this project involves clinical research into multiple disorders of the nervous system: Rett syndrome (RTT), MECP2 duplication disorder, CDKL5 disorder, and FOXG1 syndrome. These conditions strike previously healthy-seeming children early in their lives and can lead to multiple complex issues including seizures, difficulty with fine motor control, walking, communication, digestion, breathing, and intellectual disability.

The research center’s work takes the form of a natural history study with three major goals: identify and understand the core clinical features of each disorder; identify factors that can modify the severity of the disorders; and understand the relationship between patients’ symptoms and their brain imaging and electroencephalography alterations.  The study will now involve a total of 14 participating sites including the original NIH NCATS RDCRN funded 11 sites listed here:

1.    Baylor College of Medicine, Texas Children’s Hospital – Daniel G. Glaze, MD
2.    Children’s Hospital of Philadelphia - Eric D. Marsh, MD PhD
3.    Greenwood Genetic Center – Steven A. Skinner, MD
4.    Harvard Medical School, Boston Children’s Hospital - Walter E. Kaufmann, MD
5.    Rush University Medical Center – Peter T. Heydemann, MD
6.    University of Alabama at Birmingham – Alan K. Percy, MD
7.    University of California San Francisco Benioff Oakland Children’s Hospital – Mary Jones, MD
8.    University of California, San Diego, Rady Children’s Hospital – Jeffrey L. Neul, MD PhD
9.    University of Colorado Medical School, Denver – Timothy A. Benke, MD PhD
10.    University of Rochester Medical Center – Alex R. Paciorkowski, MD, FACMG
11.    Vanderbilt University Medical Center – Sarika U. Peters, PhD

Timothy Feyma, MD, Pediatric Neurologist, Rett Syndrome Services and Research, Gillette Children’s Specialty Healthcare:
“We are honored to be a part of the Rett Natural History Study, a project that hopes to guide us in better counseling and caring for our Rett patients and families.  In order to best fight a disease we need to pool our collective knowledge and collaborate beyond state borders.  We are excited to partner with the local Rett families in this quest.”

Shannon Standridge, DO, MPH, Co-Director, Rett Syndrome and Related Spectrum Disorders Clinic, Cincinnati Children’s Hospital Medical Center:
“The Natural History Study is an excellent opportunity to better understand just how Rett syndrome affects not only the lives of the individuals but their families as well. Through the Natural History Study, we can observe and learn about the continuum of medical concerns and the management in our patient’s lives.

Cincinnati Children’s Hospital Medical Center Rett Syndrome and Related Spectrum Disorders Clinic is excited to build a strong collaboration with Rettsyndrome.org as well as the other centers involved in the Natural History Study.   Just as our joining the Rett Consortium reflects our commitment, the involvement of Rettsyndrome.org is similarly a powerful statement of this organization’s commitment to discovering more about Rett Syndrome.

We look forward to partnering with Rettsyndrome.org in order to offer the possibility to our patients to enroll in the Natural History Study who may have not had the opportunity previously due to limitations of travel or timing.  Together we will work with Rettsyndrome.org towards the goals of “Accelerating research” and “Empowering Families.”

Robin Ryther, M.D., Ph.D., Director, Rett Spectrum Clinic, Washington University School of Medicine and Saint Louis Children's Hospital:
"Dr. Judy Weisenberg and I are thrilled to be joining the Natural History Study.  It is a critical study that lays the foundation for a better understanding of the clinical breadth of Rett syndrome and related disorders, and helps moves us forward on the journey to a cure.  With the support of Rettsyndrome.org, we are excited to make this important research more accessible for our patients and families in the Midwest."

Why do we want families to enroll in the Natural History Study (NHS)?
* "Baseline" NHS data is still needed and fundamental for clinical research to progress
* Participating in the NHS empowers families as contributors in the research process
* Participation demonstrates that our community is RESEARCH READY

  • Enrollment requires families to organize records, genetic tests,  documentation and early childhood milestones which are often the first step towards enrolling in other clinical trials
  • Readiness of clinical research sites for additional critical clinical trial studies

Please note: There is no fee or insurance charge to participate.  However if you wish to schedule a regular patient appointment or assessment after the data is collected, the site will discuss their accepted insurance plans.  It can vary across the 14 sites.

For more information about the Rett Syndrome and Rett Related Disorders Natural History Study, please contact our Director of Training and Development, Paige Nues at 1.800.818.7388 or at pnues@rettsyndrome.org or visit www.rettsyndrome.org/research/natural-history-study.