Dr. Galanopoulou and colleagues at Albert Einstein College of Medicine in NY, sought a way to prevent the devastating consequences of infantile spasms

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CURE Epilepsy Discovery: Targeting Infantile Spasms After Disease Onset

Key Points:
* CURE Epilepsy awardee, Dr. Aristea Galanopoulou and colleagues at Albert Einstein College of Medicine in New York sought a way to prevent the devastating consequences of already-established infantile spasms ([link removed]) (IS).
* They used a novel, more clinically relevant IS rat model [1] to test the effect of a specific substance known as rapamycin on motor seizures, spasms, and sleep wave patterns, both immediately and over time.
* Data show that rapamycin appears to be an effective treatment for IS and that short-term administration early in life and during the peak of spasms can prevent future seizures in adulthood and even improve cognitive outcomes.

Deep Dive:

Infantile spasms (IS) is a rare (~0.03% of all live births) and catastrophic type of epilepsy that usually first manifests between 3 to 7 months of age [2,3], and infants with poor response to first-line treatment are at an increased risk for a more serious form of epilepsy known as Lennox-Gastaut syndrome (LGS) [4]. Because one of the symptoms includes stereotypical jerks resembling colic, IS is difficult for parents and sometimes even pediatricians to recognize. Conclusive diagnosis is made by the spasms themselves, developmental delay, and often an abnormal, disorganized electroencephalographic (EEG) pattern known as hypsarrhythmia. This chaotic EEG pattern is observed between seizures and characterized by irregular, nonrhythmic waves and spikes of electrical activity [2,3].

IS is commonly treated with a combination of one or two specific steroids (adrenocorticotropic hormone [ACTH] and/or prednisone) and/or the antiseizure medication (ASM) vigabatrin [3,5,6]. These treatmentshttps://www.cureepilepsy.org/news/cure-epilepsy-discovery-targeting-infantile-spasms-after-disease-onset/ are only effective in approximately 50% of patients [7] and, for those who do respond, diagnosis must be made early enough to minimize significant cognitive deterioration. However, these therapies do not reduce the incidence of future epilepsy and almost two-thirds of these infants continue to have seizures that do not respond to existing therapies [6]. Unfortunately, at present there is no consistent way of predicting who will respond to these treatments. Moreover, the optimal therapy would not only acutely arrest seizure activity but would also possess a “permanent” disease-modifying effect and perhaps even reverse any cognitive decline that had already taken place.
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