Ketogenic Diet for Prevention of Epileptic Spasms in Infantile Onset Genetic Epilepsies
Phase 1 Study of Ketogenic Diet for Prevention of Epileptic Spasms in Infantile Onset Genetic Epilepsies
Heather Olson
10 participants
Aug 11, 2025
INTERVENTIONAL
Conditions
Summary
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 genetic seizure disorders to establish if the protocol of early ketogenic diet administration and ES evaluation is safe and feasible.
Eligibility
Inclusion Criteria7
- 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
- Abnormal development (any sub score of the Bayley-4 less than 1 standard deviation below the mean) and/or neurologic exam (microcephaly, macrocephaly, strabismus, abnormal vision/CVI, hypotonia, spasticity, dystonia, movement disorder), per investigators judgment
- Genetic epilepsy diagnosis, pathogenic or likely pathogenic variant(s) with consistent phenotype and inheritance pattern
- Weight adequate to complete required study laboratory testing without exceeding maximum allowable blood draws per draw or in a 30 day period per BCH policy
Exclusion Criteria4
- 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.
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Interventions
The 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.
Locations(1)
View Full Details on ClinicalTrials.gov
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NCT06700811