Ketogenic Diet for Prevention of Epileptic Spasms in Infantile Onset Genetic Epilepsies

NCT06700811 | Recruiting Phase 1 DMC FDA Drug

• 1 other identifier: P00047586
• Study Type: interventional
• Target: 10
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Genetic Epilepsy; Neonatal and Infant Epilepsy; Developmental and Epileptic Encephalopathies; Epileptic Spasms

Keywords

Ketogenic diet; Epileptic spasms prevention; epilepsy; infantile spasms; epileptic spasms; seizures; infant; eeg; open label; Phase 1; dietary treatments; developmental and epileptic encephalopathy; genetic; prevention; epileptic encephalopathy; refractory epilepsy

Outcome Measures

Primary Outcomes (2)

• 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

  rom ketogenic diet initiation until 3 months after the diagnosis of ES (if it occurs) or until 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

  From ketogenic diet initiation until the onset of ES (if it occurs) or until 12 months of age

Secondary Outcomes (3)

• Epileptic Spasms Outcome

  From ketogenic diet initiation until 12 months of age

• EEG Outcome

  From ketogenic diet initiation until 12 months of age

• Safety Outcome

  From ketogenic diet initiation until the diet is weaned (up to 18 months of age)

Study Arms (1)

Ketogenic diet

EXPERIMENTAL

KetoVie® 4:1 Formula will be administered by oral feeding or gastrostomy tube as indicated. The duration of the diet will be from the time of enrollment up to 12 months of age or until 3 months after a diagnosis of Epileptic Spasms (range 3-15 months).

Drug: Ketogenic diet

Interventions

Ketogenic diet DRUG

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.

Ketogenic diet

Eligibility Criteria

• Age: 0 Days - 9 Months
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• 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

You may not qualify if:

• Epileptic spams prior to enrollment
• Tuberous sclerosis complex, trisomy 21 (based on differential response to ES treatment)
• Ongoing treatment with vigabatrin, ACTH, corticosteroids, topiramate or zonisamide. Other anti-seizure medications are permitted.

Sponsors & Collaborators

• Heather Olson: lead
• Boston Children's Hospital: collaborator

Study Sites (1)

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

RECRUITING

MeSH Terms

Conditions

Spasms, Infantile; Epilepsy; Seizures; Drug Resistant Epilepsy

Interventions

Diet, Ketogenic

Condition Hierarchy (Ancestors)

Epilepsy, Generalized; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Epileptic Syndromes; Neurologic Manifestations; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Diet, Carbohydrate-Restricted; Diet Therapy; Nutrition Therapy; Therapeutics; Diet; Nutritional Physiological Phenomena; Diet, Food, and Nutrition; Physiological Phenomena

Central Study Contacts

Heather E Olson, MD, MS

CONTACT

617-355-7970; Heather.Olson@childrens.harvard.edu

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NA
• Masking: NONE
• Purpose: PREVENTION
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Assocaite Professor of Neurology

Model Details: All subjects will receive treatment with ketogenic diet.

Study Record Dates

• First Submitted: November 12, 2024
• First Posted: November 22, 2024
• Study Start: August 11, 2025
• Primary Completion (Estimated): November 1, 2027
• Study Completion (Estimated): May 1, 2028
• Last Updated: February 2, 2026

Record last verified: 2026-01

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)