Infantile Spasms: Clinical and Genetic Predictors of Outcomes and Therapeutic Insights

Investigator: Elliott Sherr, MD, PhD
Sponsor: Citizens United for Research in Epilepsy

Location(s): United States


Infantile spasms (IS) is a rare childhood epilepsy syndrome that can have profoundly negative long-term developmental and cognitive consequences.

Disease onset is typically between 3-7 months of age, and many children develop other seizure syndromes as they age. Infantile spasms is characterized by hypsarrhythmia on the EEG, a developmental feature unique to this syndrome. Importantly, a strong correlation has been noted between the presence of hypsarrhythmia plus spasms and cognitive and developmental delays.

Complete control of spasms can lead to an improved long-term outcome; however, currently available treatments are not always effective and are often associated with substantial adverse effects. As such, CURE has issued a directed grant program to accelerate the understanding of infantile spasms and advance a new, disease-modifying therapy into the clinic.