NCT04722315

Study of Modified Atkins Diet in Kabuki Syndrome

Pilot Clinical Trial of Modified Atkins Diet for Kabuki Syndrome

• Status: Completed
• Phase: EARLY_Phase 1
• Study type: Interventional
• Enrollment: 10 (actual)
• Sponsor: Hugo W. Moser Research Institute at Kennedy Krieger, Inc. · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

Summary

Animal models of Kabuki syndrome have showed a reversal of the cognitive phenotype with ketogenic diet. Modified Atkins diet is safer and easier tolerated than full ketogenic diet and still has the histone deacetylase inhibition believed to be responsible for the cognitive improvement. This study aims to examine a small number of adults with Kabuki syndrome before and after 12 weeks on a modified Atkins diet to determine if there is any cognitive improvement and if the diet can be tolerated.

Detailed description

Consented participants will participate in an initial 2 day study visit. These participants will undergo cognitive and neurobehavioral testing and also will have baseline labs drawn and will meet with a Johns Hopkins nutritionist trained in modified Atkins diet for education. The labs are standard of care for diet initiation to rule out contraindications to the diet. Participants and/or their caregivers will keep a daily diet log and will be asked to download the free Carb Manager application onto their smartphone. They will send the logs and data back weekly. Participants will be given urine ketone strips and asked to use and record in their diet log twice weekly. Participants will have blood and urine samples collected locally every 3 weeks and sent back to study team to measure Beta-hydroxybutyrate, metabolic studies and methylation. Participants will return to Baltimore at the end of 12 weeks for a one day visit to repeat the cognitive assessment protocol, neurobehavioral measures, and repeat the initial and follow up lab tests.

Conditions

• Kabuki Syndrome

Interventions

Type	Name	Description
DIETARY_SUPPLEMENT	Modified Atkins diet	12 weeks of modified Atkins diet

Timeline

• Start date: 2021-04-01
• Primary completion: 2024-01-26
• Completion: 2025-03-12
• First posted: 2021-01-25
• Last updated: 2025-05-13
• Results posted: 2025-05-13

Locations

1 site across 1 country: United States