Early Phase 1
N=10
Study of Modified Atkins Diet in Kabuki Syndrome
Kabuki Syndrome
Bottom Line
View on ClinicalTrials.gov: NCT04722315 ↗Enrolled (actual)
10
Serious AEs
0.0%
Results posted
May 2025
Primary outcome: Primary: Benton Judgement of Line Orientation — 8.6; 11.6 score on a scale
Study Design & Population
- Study type
- Interventional
- Phase
- Early Phase 1
- Interventions
- Modified Atkins diet (Dietary_supplement)
- Age
- Adult, Older Adult · 18+ yrs
- Sex
- All
- Sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
- Primary completion
- Jan 2024
Outcome Measures
| Outcome | Result | p-value |
|---|---|---|
| PRIMARY Benton Judgement of Line Orientation |
8.6; 11.6 | — |
| PRIMARY Brief Visuospatial Memory Test |
10.9; 11.7; 4.1; 5 | — |
| PRIMARY NIH Toolbox Picture Sequence Memory |
92.4; 93.2 | — |
| PRIMARY Beery Developmental Test of Visual Motor Integration |
16.3; 17.2 | — |
| PRIMARY Beery Developmental Test of Visual Perception |
20.7; 21.2 | — |
| PRIMARY Wechsler Intelligence Scale for Children -V Block Design |
19.3; 21.4 | — |
| PRIMARY Hopkins Verbal Learning Test |
22.9; 24.3 | — |
| SECONDARY DNA Methylation Analysis |
— | — |
| SECONDARY Caregiver Behavior Rating Scales: GAS-ID |
12; 11.3 | — |
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.
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
Data sourced from ClinicalTrials.gov (NCT04722315). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.