NCT04722315

Study of Modified Atkins Diet in Kabuki Syndrome

Completed EARLY_PHASE1 Results posted Last updated 13 May 2025

What this trial tests

EARLY_PHASE1 trial testing Modified Atkins diet in Kabuki Syndrome in 10 participants. Completed in 12 March 2025.

Timeline

1 April 2021

Primary endpoint
26 January 2024

12 March 2025

Quick facts

Lead sponsor	Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Phase	EARLY_PHASE1
Status	Completed
Study type	INTERVENTIONAL
Allocation	na
Design	single group
Masking	none
Primary purpose	treatment
Enrollment	10
Start date	1 April 2021
Primary completion	26 January 2024
Estimated completion	12 March 2025
Sites	1 location across United States

Drugs / interventions tested

• Modified Atkins diet

Conditions studied

• Kabuki Syndrome — all drugs for Kabuki Syndrome →

Sponsor

Hugo W. Moser Research Institute at Kennedy Krieger, Inc.

Who can join

18 and older, any sex, with Kabuki Syndrome. Patients with the condition only — healthy volunteers not accepted.

Results — posted to ClinicalTrials.gov

Per-arm endpoint measurements with 95% confidence intervals where reported. Source: trial results section.

Benton Judgement of Line Orientation Primary · 12 weeks

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).

Group	Value	95% CI
Baseline Measures	8.6	± 7.65
Measures After 12 Weeks of MAD	11.6	± 8.11

Brief Visuospatial Memory Test Primary · 12 weeks

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.

Group	Value	95% CI
Baseline BVMT Immediate Score	10.9	± 8.17
Baseline BVMT Delayed Score	11.7	± 8.29
BVMT Immediate Score Post-MAD	4.1	± 3.70
BVMT Delayed Score Post-MAD	5	± 3.83

NIH Toolbox Picture Sequence Memory Primary · 12 weeks

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.

Group	Value	95% CI
Baseline Measures	92.4	± 14.23
Measures After 12 Weeks of MAD	93.2	± 17.34

Beery Developmental Test of Visual Motor Integration Primary · 12 weeks

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.

Group	Value	95% CI
Baseline Measures	16.3	± 4.76
Measures After 12 Weeks of MAD	17.2	± 4.16

Beery Developmental Test of Visual Perception Primary · 12 weeks

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.

Group	Value	95% CI
Baseline Measures	20.7	± 3.02
Measures After 12 Weeks of MAD	21.2	± 3.12

Wechsler Intelligence Scale for Children -V Block Design Primary · 12 weeks

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.

Group	Value	95% CI
Baseline Measures	19.3	± 8.37
Measures After 12 Weeks of MAD	21.4	± 10.11

Hopkins Verbal Learning Test Primary · 12 weeks

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.

Group	Value	95% CI
Baseline Measures	22.9	± 6.98
Measures After 12 Weeks of MAD	24.3	± 7.01

Caregiver Behavior Rating Scales: GAS-ID Secondary · 12 weeks

Rating scale for anxiety consists of 27 items with scores ranging from 0-70 with higher scores indicating more anxiety. Performed at baseline and post-diet.

Group	Value	95% CI
Baseline Measures	12	± 6.91
Measures After 12 Weeks of MAD	11.3	± 6.27

Adverse events — posted to ClinicalTrials.gov

Time frame: 12 weeks. Reporting threshold: 0%. Adverse-event reports describe events observed during the trial — not all are caused by the drug.

MAD Diet Group

Serious: 0/10 (0%)

Deaths: 0/10

Other adverse events (6 terms — click to expand)

Reaction	System	MAD Diet Group
Diarrhea	Gastrointestinal disorders	—
Hypertriglyceridemia or Hypercholesterolemia	Vascular disorders	—
Constipation	Gastrointestinal disorders	—
Lightheadedness	General disorders	—
Low platelets	Blood and lymphatic system disorders	—
Hypoglycemia	Endocrine disorders	—

Data from ClinicalTrials.gov NCT04722315 adverse events section.

Sponsor's own description

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.

Publications & conference data

2 peer-reviewed publications reference this trial (live from Europe PMC):

1. Molecular insights of KMT2D and clinical aspects of Kabuki syndrome type 1.
   Golden CS, Williams S, Serrano MA. · · 2023 · cited 6× · PMID 37158694 · DOI 10.1002/bdr2.2183
2. Peripheral blood DNA methylation and neuroanatomical responses to HDACi treatment that rescues neurological deficits in a Kabuki syndrome mouse model.
   Goodman SJ, Luperchio TR, Ellegood J, Chater-Diehl E, et al · · 2023 · cited 3× · PMID 37884963 · DOI 10.1186/s13148-023-01582-x