Early ketogenic diet to prevent infantile epileptic spasms in genetic epilepsies
Phase 1 Study of Ketogenic Diet for Prevention of Epileptic Spasms in Infantile Onset Genetic Epilepsies
This pilot will try a high-fat ketogenic diet in very young infants with genetic epilepsies to see if it prevents epileptic spasms.
Quick facts
| Phase | Phase 1 |
|---|---|
| Study type | Interventional |
| Enrollment | 10 (estimated) |
| Ages | 0 Days to 9 Months |
| Sex | All |
| Sponsor | Boston Children's Hospital Academic / other |
| Locations | 1 site (Boston, Massachusetts) |
| Trial ID | NCT06700811 on ClinicalTrials.gov |
What this trial studies
This is a single-center, open-label pilot in 10 infants with genetic developmental and epileptic encephalopathies and seizure onset before 6 months. Subjects will start a standardized ketogenic formula (goal ratio 4:1, KetoVie) within six weeks of enrollment and undergo serial EEG monitoring. The trial focuses on feasibility and safety, tracking adherence to the diet and EEG/clinical detection of epileptic spasms. The protocol is designed to determine whether early ketogenic feeding can be maintained and whether it affects the later appearance or treatment response of epileptic spasms.
Who should consider this trial
Good fit: Infants younger than 9 months with a pathogenic or likely pathogenic genetic epilepsy variant, seizure onset before 6 months, abnormal development or neurologic exam findings, and whose clinical team plans to start the KetoVie ketogenic formula are ideal candidates.
Not a fit: Infants without a confirmed genetic diagnosis, with seizure onset at or after 6 months, who cannot tolerate or receive the KetoVie formula, or who have medical contraindications to a ketogenic diet are unlikely to benefit from this protocol.
Why it matters
Potential benefit: If successful, early ketogenic feeding could reduce the risk of developing epileptic spasms and improve later developmental outcomes.
How similar studies have performed: The ketogenic diet is an established option for refractory infant seizures including epileptic spasms and seizure prevention has precedent in tuberous sclerosis with vigabatrin, but using early ketogenic diet specifically to prevent spasms in genetic DEEs is a novel, unproven approach.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * 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 Criteria: * 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.
Where this trial is running
Boston, Massachusetts
- Boston Children's Hospital — Boston, Massachusetts, United States (Recruiting)
Study contacts
- Study coordinator: Heather E Olson, MD, MS
- Email: Heather.Olson@childrens.harvard.edu
- Phone: 617-355-7970
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.