Published on in CHOP News
Children’s Hospital of Philadelphia (CHOP) is proud to have been identified by The International Foundation for CDKL5 Research (IFCR) as a new CDKL5 Center of Excellence. CDKL5 deficiency disorder (CDD) is a rare genetic disorder affecting 1 in 40,000 – 60,000 live births. It is characterized by early-onset, intractable epilepsy and neurodevelopmental delays. Eric Marsh, MD, PhD, pediatric neurologist in the Division of Neurology at CHOP, is director of the center.
The center gives families affected by CDD access to a wide range of specialists without the need for making multiple appointments. It is the eighth CDKL5 Center of Excellence that the IFCR has established in the United States – more than any other country in the world. The goal of the center is to provide families affected by CDD direct access to specialists they cannot find in their hometowns. The centers also provide guidance on CDD to physicians and health systems internationally. The Philadelphia Center of Excellence was made possible due to the generous support from the International Foundation for CDKL5 Research.
Contact: Kaila Conti, The Children’s Hospital of Philadelphia, 267-426-6054 or firstname.lastname@example.org