Contact: Tracy Dixon-Salazar, PhD
Phone: 718-374-3800

Families Dedicated to Conquering Rare Epilepsies
Join Efforts to Improve Treatment Options
Two-part Nov. 1, 2019 meeting will highlight unmet needs & treatment expectations

Bohemia, N.Y. – [October 7, 2019] – Two organizations focused on developmental and epileptic encephalopathies (DEEs), including two specific DEEs – Lennox-Gastaut Syndrome (LGS) and CDKL5 deficiency disorder (CDD) – will gather families near Washington, D.C. to share perspectives on what living with these rare neurological conditions is like with regulators at the U.S. Food and Drug Administration (FDA), drug developers, and researchers. The LGS Foundation and the International Foundation for CDKL5 Research will host back-to-back patient-focused drug development meetings on Nov. 1, 2019. Parents, caregivers, and other family members will speak on behalf of their loved ones (including infants and young children, teens, and adults) about the challenging path to accurate diagnosis, impacts on daily life, symptom management, frequent use of emergency rescue therapies, and treatment expectations. Most children and adults with DEEs have severe intellectual deficits and greatly impaired communication skills.

The term developmental and epileptic encephalopathies describes a cluster of rare and ultra-rare diseases with similar presentations but varied causes and contributors, including injury, brain malformations, infections, and genetic factors. DEEs generally manifest in infancy or by early childhood. Most are marked by seizures (sometimes occurring hundreds of times each day), developmental delays, behavioral disturbances, and brain wave abnormalities. These disorders can be progressive and are highly resistant to current treatments that focus mainly on seizure control. Some DEEs, like LGS, are classified only by their syndrome name. Others, including CDKL5 deficiency disorder, have known genetic causes that offer new avenues for research and therapy development. Still, others are classified by their etiology and syndrome, such as LGS secondary to CDKL5 deficiency.

Christina SanInocencio, Executive Director of the LGS Foundation and sibling to an adult man with LGS says, “There is growing interest in the DEEs, including LGS, but we desperately need better options to improve the outcomes and outlook for people like my brother who may have a relatively normal projected lifespan, but will never live independently due to the developmental, cognitive, and physical limitations they experience,” Christina asserted.


Karen Utley, President and co-founder of the International Foundation for CDKL5 Research and mother to a daughter living with CDD says, “CDD is a distinct disorder that has global consequences for those affected. We look forward to this opportunity to focus our conversation on the burden of non-seizure CDD symptoms such as cognition, cortical visual impairment, motor function, communication and gastrointestinal complications that contribute significantly to patient and family quality of life.”


On Nov. 1, the morning session will cover the DEEs broadly, with a focus on LGS secondary to a variety of specific etiologies, and is being referred to as the “DELVE” meeting (Developmental and Epileptic Encephalopathy - Lived Voices of Experience). The afternoon session will be dedicated to CDKL5 deficiency disorder. FDA staff and drug and device makers will be present at the meeting in listening mode. The paired meetings are part of a larger initiative launched by FDA in 2013 to help regulators understand what individuals living with certain diseases experience, which symptoms present the most difficulty, which treatment benefits matter most to them, and how they perceive potential risks and harms associated with treatment. Caregivers’ views are welcomed as part of this initiative, especially in diseases like the DEEs where patients regularly cannot speak for themselves.

For information about attending the Nov. 1, 2019 meeting on DEEs and LGS, visit For information about the meeting focused on CDKL5 deficiency disorder, visit