Developmental and Epileptic EncephalopathiesPhase 1NCT06700811
Ketogenic Diet for Prevention of Epileptic Spasms in Infantile Onset Genetic Epilepsies
A Phase 1 study testing Ketogenic diet in people with Developmental and Epileptic Encephalopathies and Epileptic Spasms, run by Heather Olson at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 0 days to 9 months
- Conditions the study is for
- Developmental and Epileptic Encephalopathies, Epileptic Spasms, Genetic Epilepsy
- What is being tested?
- Ketogenic diet
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 1 participants
- Where
- 1 siteUnited States
- Study dates
- 11 Aug 2025to 27 Sep 2026
- Phase
- Phase 1
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 0 days to 9 months
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- 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
- Suspected or confirmed genetic diagnosis as a cause for epilepsy
- 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
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
United States1 site
Boston Children's Hospital
Boston, Massachusetts, 02115
About this study
Official title: Phase 1 Study of Ketogenic Diet for Prevention of Epileptic Spasms in Infantile Onset Genetic Epilepsies
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.
Read the detailed description
Epileptic spasms (ES) are a highly prevalent and often refractory form of seizures in genetic Developmental and Epileptic Encephalopathies (DEEs), affecting 55% of patients. Prevalence is higher in subsets such as CDKL5 Deficiency Disorder (82%). Infantile epileptic spasms syndrome can be associated with developmental regression, and early and effective treatment of ES impacts developmental outcomes. Diagnosis of ES, made by a combination of clinical history and EEG, can be delayed if ES are subtle or mixed with other seizure patterns. Clinical experience and the literature support use of the ketogenic diet for refractory epilepsy in infancy, including ES, particularly for some established genetic diagnoses. Further, there is precedent for preventing seizures, including ES, in Tuberous Sclerosis Complex with vigabatrin. The hypothesis of this investigation is that treatment of infants with suspected or confirmed genetic DEEs with the ketogenic diet will prevent the development of ES, or, if ES do develop, improve treatment response to standard therapy. The focused goal of this proposal is to demonstrate feasibility of initiating and maintaining ketogenic diet in infants with suspected or confirmed genetic DEEs, with serial EEG monitoring. This trial is a prospective, open-label treatment with ketogenic diet (goal ratio 4:1) in 10 infants with suspected or confirmed genetic DEE (seizure onset <6 months). The trial will evaluate adherence to ketogenic diet, starting within 6 weeks of enrollment, with a primary endpoint of maintaining a minimum ratio of 1:1 through 3 months after ES onset (12 months of age if they do not develop ES). The trial will evaluate adherence to EEG testing every 6 weeks. This work will lay the foundation for a multi-center Phase 2 trial.
- Conditions
- Developmental and Epileptic Encephalopathies, Epileptic Spasms, Genetic Epilepsy, Neonatal and Infant Epilepsy
- Being tested
- Ketogenic diet
- 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
- Medical subject headings
- Spasms, Infantile, Epilepsy, Seizures, Drug Resistant Epilepsy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Ketogenic dietDrug
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.
| Study group | Role | What they receive |
|---|---|---|
| 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). Receives: Drug: Ketogenic diet |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: 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
Measured: From ketogenic diet initiation until the onset of ES (if it occurs) or until 12 months of age
Secondary outcomes (3)
Epileptic Spasms Outcome
Proportion of subjects who develop ES by 12 months of age
Measured: From ketogenic diet initiation until 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
Measured: From ketogenic diet initiation until 12 months of age
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
Measured: From ketogenic diet initiation until the diet is weaned (up to 18 months of age)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Nov 2024
- Study start11 Aug 2025
- Primary completion27 Sep 2026
- Study completion27 Sep 2026
Why it stopped: The study closed due to recruitment challenges.
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Developmental and Epileptic EncephalopathiesStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 1
- Primary purpose
- Prevention
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- All subjects will receive treatment with ketogenic diet.
- Masking
- None (open label)
- Enrolment
- 1 participants (actual)
Sponsor and investigators
- Lead sponsor
- Heather Olson
- Sponsor type
- University, hospital or other
- Collaborators
- Boston Children's Hospital
- Responsible party
- Sponsor-investigator, Heather Olson, Boston Children's Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06700811
- Sponsor's protocol ID
- P00047586
- Status last verified
- Oct 2026
- First submitted
- 12 Nov 2024
- Last updated
- 14 Oct 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 14 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Phase 1 Study of Ketogenic Diet for Prevention of Epileptic Spasms in Infantile Onset Genetic Epilepsies
- ClinicalTrials.gov ID
- NCT06700811
- Acronym / sponsor ID
- P00047586
- Conditions
- Developmental and Epileptic Encephalopathies, Epileptic Spasms, Genetic Epilepsy, Neonatal and Infant Epilepsy
- Keywords
- Ketogenic diet, Epileptic spasms prevention, epilepsy, infantile spasms, epileptic spasms, seizures, infant, eeg
- Phase
- Phase 1
- Study type
- Interventional
- Recruitment status
- TerminatedReason stopped: The study closed due to recruitment challenges.
- Enrolment
- 1 participants (actual)
- Lead sponsor
- Heather OlsonUniversity, hospital or other
- Collaborators
- Boston Children's Hospital
- Study start
- 11 Aug 2025 (actual)
- Primary completion
- 27 Sep 2026 (actual)
- Study completion
- 27 Sep 2026 (actual)
- First posted
- 22 Nov 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
Epileptic spasms (ES) are a highly prevalent and often refractory form of seizures in genetic Developmental and Epileptic Encephalopathies (DEEs), affecting 55% of patients. Prevalence is higher in subsets such as CDKL5 Deficiency Disorder (82%). Infantile epileptic spasms syndrome can be associated with developmental regression, and early and effective treatment of ES impacts developmental outcomes. Diagnosis of ES, made by a combination of clinical history and EEG, can be delayed if ES are subtle or mixed with other seizure patterns. Clinical experience and the literature support use of the ketogenic diet for refractory epilepsy in infancy, including ES, particularly for some established genetic diagnoses. Further, there is precedent for preventing seizures, including ES, in Tuberous Sclerosis Complex with vigabatrin. The hypothesis of this investigation is that treatment of infants with suspected or confirmed genetic DEEs with the ketogenic diet will prevent the development of ES, or, if ES do develop, improve treatment response to standard therapy. The focused goal of this proposal is to demonstrate feasibility of initiating and maintaining ketogenic diet in infants with suspected or confirmed genetic DEEs, with serial EEG monitoring. This trial is a prospective, open-label treatment with ketogenic diet (goal ratio 4:1) in 10 infants with suspected or confirmed genetic DEE (seizure onset <6 months). The trial will evaluate adherence to ketogenic diet, starting within 6 weeks of enrollment, with a primary endpoint of maintaining a minimum ratio of 1:1 through 3 months after ES onset (12 months of age if they do not develop ES). The trial will evaluate adherence to EEG testing every 6 weeks. This work will lay the foundation for a multi-center Phase 2 trial.
Study design
- Primary purpose
- Prevention
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- All subjects will receive treatment with ketogenic diet.
| Arm | Type | Receives |
|---|---|---|
| Ketogenic diet | Experimental | Drug: Ketogenic dietKetoVie® 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). |
Who may qualify
- Ages
- 0 days to 9 months
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (7 listed)
- 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
Key exclusion criteria (4 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Ketogenic dietThe 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. | Drug | Ketogenic diet |
Primary outcome
Achievement of ketosis
Time frame: rom ketogenic diet initiation until 3 months after the diagnosis of ES (if it occurs) or until 12 months of age
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
Time frame: From ketogenic diet initiation until the onset of ES (if it occurs) or until 12 months of age
Proportion of subjects who complete EEGs every 6 weeks (+/- 2 weeks) until onset of ES or 12 months of age
3 secondary outcomes
Epileptic Spasms Outcome
Time frame: From ketogenic diet initiation until 12 months of age
EEG Outcome
Time frame: From ketogenic diet initiation until 12 months of age
Safety Outcome
Time frame: From ketogenic diet initiation until the diet is weaned (up to 18 months of age)
Results and safety
The study was stopped early (reason given: The study closed due to recruitment challenges.). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 14 Oct 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1 study testing Ketogenic diet in people with Developmental and Epileptic Encephalopathies and Epileptic Spasms, run by Heather Olson at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 7 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 14 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
The study was stopped early (reason given: The study closed due to recruitment challenges.). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Achievement of ketosis (time frame: rom ketogenic diet initiation until 3 months after the diagnosis of ES (if it occurs) or until 12 months of age). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 14 Oct 2026.