Epileptic spasms (ES) are a predominantly infantile seizure type observed frequently in certain genetic disorders. Ketogenic diet (high ratio of fat to carbohydrate/protein) is an established non-medication treatment for difficult to control seizures, including ES. Because ES are associated with worse developmental and cognitive outcomes if not detected or treated quickly and effectively, this trial aims to test the ketogenic diet to prevent ES in this high-risk population. This trial is a single-center pilot study of 10 infants with suspected or confirmed genetic seizure disorders to establish if the protocol of early ketogenic diet administration and ES evaluation is safe and feasible.
Plan for initiation of ketogenic diet by clinical team for treatment of epilepsy
The clinical team initiating the ketogenic diet agrees that the use of the KetoVie formula is appropriate for the subject, as all study subjects need to receive the same formula
Male or female, age 0 to less than 9 months (including neonates per investigator's judgment)
Epilepsy onset at less than 6 months of age
Epileptic spams prior to enrollment
Tuberous sclerosis complex, trisomy 21 (based on differential response to ES treatment)
Metabolic diagnosis with targeted treatment (including specific indication for ketogenic diet such as glucose transporter disorder, vitamin dependent epilepsies, and others) or exclusion for the ketogenic diet
Ongoing treatment with vigabatrin, ACTH, corticosteroids, topiramate or zonisamide. Other anti-seizure medications are permitted.
Single group
Ketogenic diet
DrugThe ketogenic diet formula will be KetoVie®, supplied by Ajinomoto Cambrooke. Ketogenic diet ratio will aim to achieve ketosis, with a minimum level of beta-hydroxybutyrate of 1.0mmol/L. Ratios of ketogenic diet generally range from 1:1 to 4:1. Ratio will increase per standard clinical care for ketogenic diet initiation. For the trial we will aim to reach a maximum of 4:1 by the 6 week follow-up visit, but stopping at a lower ratio if BHB is ≥ 5mmol/L, CO2 ≤ 18 mmol/L, for tolerance, or to meet protein needs. A minimum 1:1 ratio is required to continue in the trial. Ratios higher than 1:1 are often required to obtain ketosis of ideally 2-5mmol/L in infants.
Achievement of ketosis
Proportion of subjects assigned to ketogenic diet who achieve ketosis by 6 weeks and maintain a minimum ratio of 1:1 through 3 months after onset of epileptic spasms (ES) or 12 months of age
EEG compliance
Proportion of subjects who complete EEGs every 6 weeks (+/- 2 weeks) until onset of ES or 12 months of age
Epileptic Spasms Outcome
Proportion of subjects who develop ES by 12 months of age
EEG Outcome
Proportion of enrolled subjects for whom a study EEG identified ES or identified hypsarrhythmia with subsequent workup leading to diagnosis of ES prior to clinical suspicion
Safety Outcome
To assess safety of ketogenic diet treatment in infants with suspected or confirmed genetic DEEs by monitoring the rate of serious adverse events and adverse events, expected and unexpected
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Heather Olson
Lead sponsor
Boston Children's Hospital
Sponsor institution
Boston Children's Hospital
Collaborator
