Clinical trial NCT04722315: Study of Modified Atkins Diet in Kabuki Syndrome
Official title: Pilot Clinical Trial of Modified Atkins Diet for Kabuki Syndrome
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: EARLY_PHASE1
Conditions: Kabuki Syndrome
Lead sponsor: Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Sponsor class: OTHER
First posted: 2021-01-25
Enrollment: 10
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Intervention model description: 15 participants with Kabuki syndrome will receive a 12 week dietary intervention.
Primary purpose: TREATMENT

Brief 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.

Eligibility criteria: Inclusion Criteria:We will recruit 15 total participants with clinically-definite and genetically-confirmed Kabuki syndrome type 1 age 18 years and older. . will also be required.

* Clinical diagnosis of KS will be made based on recently published consensus diagnosis criteria
* Genetic confirmation of a pathogenic mutation in KMT2D

Exclusion Criteria:

* presence of another known genetic syndrome
* a health problem that would make a modified Atkins diet harmful
* inability to travel to Baltimore for 2 visits separated by 12 weeks

Primary outcomes:
measure: Benton Judgement of Line Orientation
timeFrame: 12 weeks
measure: Brief Visuospatial Memory Test
timeFrame: 12 weeks
measure: NIH Toolbox Picture Sequence Memory
timeFrame: 12 weeks
measure: Beery Developmental Test of Visual Motor Integration
timeFrame: 12 weeks
measure: Beery Developmental Test of Visual Perception
timeFrame: 12 weeks
measure: Wechsler Intelligence Scale for Children -V Block Design
timeFrame: 12 weeks
measure: Hopkins Verbal Learning Test
timeFrame: 12 weeks
Secondary outcomes:
measure: DNA Methylation Analysis
timeFrame: Every 3 weeks for 12 weeks
measure: Caregiver Behavior Rating Scales: GAS-ID
timeFrame: 12 weeks
Other outcomes:
Locations:
city: Baltimore
country: United States
facility: Kennedy Krieger Institute
state: Maryland
Study officials:
References: