Infantile Spasms Research Initiative
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.
We have presented these 8 groups of promising investigators with the Advancing Understanding of Infantile Spasms Award. Their projects and team leaders:
Identifying new therapies for infantile spasms
Aristea Galanopoulou (Albert Einstein College of Medicine)
Developing and testing novel treatments for infantile spasms
Libor Velisek (New York Medical College)
Infantile Spasms: Mechanisms and Consequences as Therapeutic Targets
John Swann (Baylor College of Medicine)
Infantile Spasms Syndrome: From gene to bedside, an accelerated path to new therapy
Jeff Noebels (Baylor College of Medicine)
APC cKO mouse as a new model of infantile spasms
Chris Dulla (Tufts University)
Metabolomic Biomarker Discovery in Infantile Spasms
Manisha Patel (University of Colorado Denver)
Prevention of West Syndrome
Doug Nordli (Lurie Children’s Hospital)
Infantile Spasms: Clinical and Genetic Predictors of Outcomes and Therapeutic Insights
Elliott Sherr (University of California San Francisco)
One of the goals for this initiative is for all funded laboratories to function as part of a collaborative team focused on a common goal: finding a cure for infantile spasms. We look forward to providing you with updates throughout the initiative.