Study of Modified Atkins Diet in Kabuki Syndrome

NCT04722315 | Completed Early Phase 1 Results DMC

• 1 other identifier: 00250195
• Study Type: interventional
• Target: 10
• Locations: 1 country
• Sites: 1

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.

Conditions

Kabuki Syndrome

Outcome Measures

Primary Outcomes (7)

• Benton Judgement of Line Orientation

  Established measure to determine visuospatial perception. There are 30 items and each item is worth 1 point. Will assess change in score from baseline to post-diet. A higher score indicates a better performance (range 0-30).

  12 weeks

• Brief Visuospatial Memory Test

  Established measure to determine visuospatial memory. Immediate scores range from 0 to 36 and a higher score indicates more correct responses. Delayed scores range from 0 to 12 and a higher score indicates more correct responses. Will assess change in score from baseline to post-diet.

  12 weeks

• NIH Toolbox Picture Sequence Memory

  Established measure to determine visuospatial memory. Scaled scores based on age have a mean of 100 and a standard deviation of 15 and higher scores indicate more correct responses. Will assess change in this score from baseline to post-diet.

  12 weeks

• Beery Developmental Test of Visual Motor Integration

  Established measure to determine visuomotor integration. Since these were all adults, raw scores were used. Range is 1-27. Higher scores indicate more correct responses. Will assess change in this score from baseline to post-diet.

  12 weeks

• Beery Developmental Test of Visual Perception

  Established measure to determine visual perception. Since these were all adults, raw scores were used. Range is 1-27. Higher scores indicate more correct responses. Will assess change in this score from baseline to post-diet.

  12 weeks

• Wechsler Intelligence Scale for Children -V Block Design

  Established measure to determine visuospatial processing. Since these were all adults, raw scores were used. Range is 0-66. Higher scores indicate more correct responses. Will assess change in this score from baseline to post-diet. Will assess change in this score from baseline to post-diet.

  12 weeks

• Hopkins Verbal Learning Test

  Established measure to determine verbal memory. Scores range from 0 to 36 and a higher score indicates more correct responses. Will assess change in score from baseline to post-diet.

  12 weeks

Secondary Outcomes (2)

• DNA Methylation Analysis

  Every 3 weeks for 12 weeks

• Caregiver Behavior Rating Scales: GAS-ID

  12 weeks

Study Arms (1)

MAD diet group

EXPERIMENTAL

15 adult participants with confirmed KMT2D pathogenic mutations. Baseline labs and education about Modified Atkins Diet. Then 12 weeks on a Modified Atkins Diet. Weekly urine dips for ketones and diet logs. Blood draw every 3 weeks.

Dietary Supplement: Modified Atkins diet

Interventions

Modified Atkins diet DIETARY_SUPPLEMENT

12 weeks of modified Atkins diet

MAD diet group

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

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

You may not qualify if:

• 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

Sponsors & Collaborators

• Hugo W. Moser Research Institute at Kennedy Krieger, Inc.: lead

Study Sites (1)

Kennedy Krieger Institute

Baltimore, Maryland, 21205, United States

Location

MeSH Terms

Conditions

Kabuki syndrome

Limitations and Caveats

Single arm pilot study with no control group

Results Point of Contact

• Title: Dr. Jacqueline Harris
• Organization: Kennedy Krieger Institute

harrisjac@kennedykrieger.org

6672054295

Publication Agreements

• PI is Sponsor Employee: No
• Restrictive Agreement: No

Study Design

• Study Type: interventional
• Phase: early phase 1
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: 15 participants with Kabuki syndrome will receive a 12 week dietary intervention.

Study Record Dates

• First Submitted: November 24, 2020
• First Posted: January 25, 2021
• Study Start: April 1, 2021
• Primary Completion: January 26, 2024
• Study Completion: March 12, 2025
• Last Updated: May 13, 2025
• Results First Posted: May 13, 2025

Record last verified: 2025-04

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)