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

Description

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

Developmental and Epileptic EncephalopathiesEpileptic SpasmsGenetic EpilepsyNeonatal and Infant Epilepsy
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Related Conditions:

Developmental and Epileptic EncephalopathiesEpileptic SpasmsGenetic EpilepsyNeonatal and Infant Epilepsy

Study Overview

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Study Details

Study overview

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.

Phase 1 Study of Ketogenic Diet for Prevention of Epileptic Spasms in Infantile Onset Genetic Epilepsies

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

Condition
Developmental and Epileptic Encephalopathies
Intervention / Treatment

-

Contacts and Locations

Boston

Boston Children's Hospital, Boston, Massachusetts, United States, 02115

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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
  • * 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
  • * Malformation of cortical development
  • * 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.

Ages Eligible for Study

0 Days to 9 Months

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Heather Olson,

Study Record Dates

2028-05