For Immediate Release

International Foundation for CDKL5 Research Announces Location of its 

Second CDKL5 Center for Excellence  

 

WADSWORTH, OHIO, July 30, 2013 —The International Foundation for CDKL5 Research (IFCR) is proud to announce that the location of its second CDKL5 Center for Excellence will be at the prestigious Boston Children’s Hospital in Boston, Massachusetts.

 

CDKL5 Centers for Excellence are the only multidisciplinary clinics for the treatment of people, a majority of whom are children, with a CDKL5 Disorder (CDKL5), which is a devastating genetic condition resulting in early-onset, difficult-to-control seizures, and severe neuro-developmental impairment.

 

“After an extensive search of top notch medical facilities on the East Coast for our second CDKL5 Center for Excellence location, we found that Boston Children’s Hospital was the perfect pairing of medical expertise and research initiatives into this condition that so tragically affects those suffering with CDKL5” said Dr. Katheryn Elibri Frame, IFCR President and mother of an affected child.  “IFCR’s vision in establishing these centers is to foster physician expertise in CDKL5, and thereby establish diagnostic, therapeutic and preventative standards of care.  We are proud to partner with Boston Children’s Hospital in order to improve the quality of life and to find a cure for our children.”

 

The new CDKL5 Center for Excellence will be led by Dr. Walter Kaufmann, esteemed Director of the Rett Syndrome Program at Boston Children’s Hospital, and Dr. Heather Olson, with the hospital’s Epilepsy Genetics program.  Dr. Kaufmann leads a team of specialists with expertise in Rett Syndrome (RTT), which is a degenerative disorder that is similar to CDKL5 Disorders in its presentation and symptoms but is more common than CDKL5.  RTT affects 1 in 10,000 female births, while CDKL5 affects both males and females, however the true incidence of CDKL5 is not known at this time.   There are as many as 600 people worldwide to date, although the number is growing rapidly as genetic testing for this condition becomes more comprehensive and affordable.

 

The CDKL5 gene provides instructions for making a protein that is essential for normal brain development and function.  Although little else is yet known about the protein’s function, it likely plays a role in regulating the activity of other genes.  One of these other genes that CDKL5 is believed to regulate includes the MECP2 gene, the alteration of which is responsible for a majority of cases of RTT, hence the reason for overlapping symptoms and similar medical needs among patients with either condition.

 

The CDKL5 Center For Excellence at Boston Children’s Hospital will hold monthly clinics starting this fall.  The comprehensive, multidisciplinary clinic provides each patient with many different specialists over the course of one afternoon. These specialties include neurology, epileptology, gastroenterology/nutrition, neuro-ophthalmology, genetics, sleep specialists, and more.  Making it a truly unique experience, each of these specialists is committed to being a CDKL5 expert, relative to his or her respective specialty.

 

The clinic’s patients are given personalized recommendations for treatment, tests, and therapies, and are then followed by a nurse coordinator throughout the year.  The patient comes away from the clinic with a comprehensive treatment plan that can be instrumental in guiding his or her local educational, therapeutic and medical teams.

 

The CDKL5 Center for Excellence at Boston Children’s Hospital is the second of its kind.  The first CDKL5 Center for Excellence was announced in February of this year, and the first of its quarterly clinics concluded earlier this month.  It is held in conjunction with the Rett Syndrome Clinic at Children’s Hospital Colorado near Denver and is a partnership with the Rocky Mountain Rett Association.  A third location in the Midwest United States will be selected by the end of 2013.

 

Contact: Katheryn Elibri Frame, DO, President, IFCR

Mobile: 630-926-1189  Email: keframe@cdkl5.com

 

About the International Foundation for CDKL5 Research   A group of dedicated parents combined their talents and resources to establish a non-profit foundation in September of 2009 to lead the way in finding a cure and treatments for CDKL5 disorder by funding global research efforts and increasing awareness of CDKL5 disorder, while enhancing the quality of life for those affected by CDKL5 disorder, by providing information, programs, and services.  For more information, visit www.cdkl5.com.

 

To learn more about the Rett Syndrome Clinic at Boston Children’s Hospital, please visit http://www.childrenshospital.org/clinicalservices/Site1886/mainpageS1886P5.html.

 

For more information on Boston Children’s Hospital, visit http://childrenshospital.org/about/Site1394/mainpageS1394P0.html.