Trial Outcomes & Findings for Study of Modified Atkins Diet in Kabuki Syndrome (NCT NCT04722315)

NCT ID: NCT04722315

Last Updated: 2025-05-13

Results Overview

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).

• Recruitment status: COMPLETED
• Study phase: EARLY_PHASE1
• Target enrollment: 10 participants
• Primary outcome timeframe: 12 weeks
• Results posted on: 2025-05-13

Participant Flow

Participant milestones

Measure	MAD Diet Group 10 adult participants with confirmed KMT2D pathogenic mutations. Baseline labs and education about Modified Atkins Diet. Then 12 weeks on a Modified Atkins Diet. Modified Atkins diet: 12 weeks of modified Atkins diet
Overall Study STARTED	10
Overall Study COMPLETED	10
Overall Study NOT COMPLETED	0

Reasons for withdrawal

Withdrawal data not reported

Baseline Characteristics

Study of Modified Atkins Diet in Kabuki Syndrome

Baseline characteristics by cohort

Measure	MAD Diet Group n=10 Participants 10 adult participants with confirmed KMT2D pathogenic mutations. Baseline labs and education about Modified Atkins Diet. Then 12 weeks on a Modified Atkins Diet. Modified Atkins diet: 12 weeks of modified Atkins diet
Ethnicity (NIH/OMB) Unknown or Not Reported	0 Participants n=5 Participants
Race (NIH/OMB) American Indian or Alaska Native	0 Participants n=5 Participants
Race (NIH/OMB) Asian	1 Participants n=5 Participants
Race (NIH/OMB) Native Hawaiian or Other Pacific Islander	0 Participants n=5 Participants
Race (NIH/OMB) Black or African American	0 Participants n=5 Participants
Race (NIH/OMB) White	9 Participants n=5 Participants
Race (NIH/OMB) More than one race	0 Participants n=5 Participants
Race (NIH/OMB) Unknown or Not Reported	0 Participants n=5 Participants
Region of Enrollment United States	10 participants n=5 Participants
Age, Continuous	24.9 years n=5 Participants
Sex: Female, Male Female	6 Participants n=5 Participants
Sex: Female, Male Male	4 Participants n=5 Participants
Ethnicity (NIH/OMB) Hispanic or Latino	0 Participants n=5 Participants
Ethnicity (NIH/OMB) Not Hispanic or Latino	10 Participants n=5 Participants

PRIMARY outcome

Timeframe: 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).

Outcome measures

Measure	Baseline Measures n=10 Participants Baseline assessment of 10 adults with KMT2D pathogenic variants	Measures After 12 Weeks of MAD n=10 Participants Assessment of 10 adults with KMT2D pathogenic variants after 12 weeks on Modified Atkins Diet	BVMT Immediate Score Post-MAD Total score of 3 immediate recall trials of BVMT after 12 weeks of MAD	BVMT Delayed Score Post-MAD Total score of one delayed recall trial of BVMT after 12 weeks of MAD
Benton Judgement of Line Orientation	8.6 score on a scale Standard Deviation 7.65	11.6 score on a scale Standard Deviation 8.11	—	—

PRIMARY outcome

Timeframe: 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.

Outcome measures

Measure	Baseline Measures n=10 Participants Baseline assessment of 10 adults with KMT2D pathogenic variants	Measures After 12 Weeks of MAD n=10 Participants Assessment of 10 adults with KMT2D pathogenic variants after 12 weeks on Modified Atkins Diet	BVMT Immediate Score Post-MAD n=10 Participants Total score of 3 immediate recall trials of BVMT after 12 weeks of MAD	BVMT Delayed Score Post-MAD n=10 Participants Total score of one delayed recall trial of BVMT after 12 weeks of MAD
Brief Visuospatial Memory Test	10.9 score on a scale Standard Deviation 8.17	11.7 score on a scale Standard Deviation 8.29	4.1 score on a scale Standard Deviation 3.70	5 score on a scale Standard Deviation 3.83

PRIMARY outcome

Timeframe: 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.

Outcome measures

Measure	Baseline Measures n=10 Participants Baseline assessment of 10 adults with KMT2D pathogenic variants	Measures After 12 Weeks of MAD n=10 Participants Assessment of 10 adults with KMT2D pathogenic variants after 12 weeks on Modified Atkins Diet	BVMT Immediate Score Post-MAD Total score of 3 immediate recall trials of BVMT after 12 weeks of MAD	BVMT Delayed Score Post-MAD Total score of one delayed recall trial of BVMT after 12 weeks of MAD
NIH Toolbox Picture Sequence Memory	92.4 score on a scale Standard Deviation 14.23	93.2 score on a scale Standard Deviation 17.34	—	—

PRIMARY outcome

Timeframe: 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.

Outcome measures

Measure	Baseline Measures n=10 Participants Baseline assessment of 10 adults with KMT2D pathogenic variants	Measures After 12 Weeks of MAD n=10 Participants Assessment of 10 adults with KMT2D pathogenic variants after 12 weeks on Modified Atkins Diet	BVMT Immediate Score Post-MAD Total score of 3 immediate recall trials of BVMT after 12 weeks of MAD	BVMT Delayed Score Post-MAD Total score of one delayed recall trial of BVMT after 12 weeks of MAD
Beery Developmental Test of Visual Motor Integration	16.3 raw score Standard Deviation 4.76	17.2 raw score Standard Deviation 4.16	—	—

PRIMARY outcome

Timeframe: 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.

Outcome measures

Measure	Baseline Measures n=10 Participants Baseline assessment of 10 adults with KMT2D pathogenic variants	Measures After 12 Weeks of MAD n=10 Participants Assessment of 10 adults with KMT2D pathogenic variants after 12 weeks on Modified Atkins Diet	BVMT Immediate Score Post-MAD Total score of 3 immediate recall trials of BVMT after 12 weeks of MAD	BVMT Delayed Score Post-MAD Total score of one delayed recall trial of BVMT after 12 weeks of MAD
Beery Developmental Test of Visual Perception	20.7 raw score Standard Deviation 3.02	21.2 raw score Standard Deviation 3.12	—	—

PRIMARY outcome

Timeframe: 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.

Outcome measures

Measure	Baseline Measures n=10 Participants Baseline assessment of 10 adults with KMT2D pathogenic variants	Measures After 12 Weeks of MAD n=10 Participants Assessment of 10 adults with KMT2D pathogenic variants after 12 weeks on Modified Atkins Diet	BVMT Immediate Score Post-MAD Total score of 3 immediate recall trials of BVMT after 12 weeks of MAD	BVMT Delayed Score Post-MAD Total score of one delayed recall trial of BVMT after 12 weeks of MAD
Wechsler Intelligence Scale for Children -V Block Design	19.3 raw score Standard Deviation 8.37	21.4 raw score Standard Deviation 10.11	—	—

PRIMARY outcome

Timeframe: 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.

Outcome measures

Measure	Baseline Measures n=10 Participants Baseline assessment of 10 adults with KMT2D pathogenic variants	Measures After 12 Weeks of MAD n=10 Participants Assessment of 10 adults with KMT2D pathogenic variants after 12 weeks on Modified Atkins Diet	BVMT Immediate Score Post-MAD Total score of 3 immediate recall trials of BVMT after 12 weeks of MAD	BVMT Delayed Score Post-MAD Total score of one delayed recall trial of BVMT after 12 weeks of MAD
Hopkins Verbal Learning Test	22.9 score on a scale Standard Deviation 6.98	24.3 score on a scale Standard Deviation 7.01	—	—

SECONDARY outcome

Timeframe: Every 3 weeks for 12 weeks

Measure genome-wide methylation signature in blood of participants. To obtain genome-scale methylation measurements, bisulfite treated DNA from patient blood samples will be processed on the Infinium HumanMethylation450 BeadChip at the Johns Hopkins SNP Center in accordance with the manufacturer's recommendation. The Infinium HumanMethylation450 BeadChip measures DNA methylation levels at 485,512 loci across the genome. The array data will then be analyzed to get the proportion of methylation at a given CpG site from 0 to 1. These will be logit transformed to create M-values. Kabuki syndrome is known to have a unique signature methylation profile (determined by M-values across loci) that can be detected in blood. This genome wide DNA methylation will be done every 3 weeks to determine whether this signature changes with dietary therapy.

Outcome measures

Outcome data not reported

SECONDARY outcome

Timeframe: 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.

Outcome measures

Measure	Baseline Measures n=10 Participants Baseline assessment of 10 adults with KMT2D pathogenic variants	Measures After 12 Weeks of MAD n=10 Participants Assessment of 10 adults with KMT2D pathogenic variants after 12 weeks on Modified Atkins Diet	BVMT Immediate Score Post-MAD Total score of 3 immediate recall trials of BVMT after 12 weeks of MAD	BVMT Delayed Score Post-MAD Total score of one delayed recall trial of BVMT after 12 weeks of MAD
Caregiver Behavior Rating Scales: GAS-ID	12 score on a scale Standard Deviation 6.91	11.3 score on a scale Standard Deviation 6.27	—	—

Adverse Events

MAD Diet Group

Serious events: 0 serious events

Other events: 7 other events

Deaths: 0 deaths

Serious adverse events

Adverse event data not reported

Other adverse events

Measure	MAD Diet Group n=10 participants at risk 10 adult participants with confirmed KMT2D pathogenic mutations. Baseline labs and education about Modified Atkins Diet. Then 12 weeks on a Modified Atkins Diet. Modified Atkins diet: 12 weeks of modified Atkins diet
Gastrointestinal disorders Diarrhea	30.0% 3/10 • 12 weeks Weekly calls to participants and labs (CBC, CMP, UA) at baseline and 12 weeks
General disorders Lightheadedness	20.0% 2/10 • 12 weeks Weekly calls to participants and labs (CBC, CMP, UA) at baseline and 12 weeks
Vascular disorders Hypertriglyceridemia or Hypercholesterolemia	30.0% 3/10 • 12 weeks Weekly calls to participants and labs (CBC, CMP, UA) at baseline and 12 weeks
Blood and lymphatic system disorders Low platelets	20.0% 2/10 • 12 weeks Weekly calls to participants and labs (CBC, CMP, UA) at baseline and 12 weeks
Endocrine disorders Hypoglycemia	10.0% 1/10 • 12 weeks Weekly calls to participants and labs (CBC, CMP, UA) at baseline and 12 weeks
Gastrointestinal disorders Constipation	30.0% 3/10 • 12 weeks Weekly calls to participants and labs (CBC, CMP, UA) at baseline and 12 weeks

Additional Information

Dr. Jacqueline Harris

Kennedy Krieger Institute

Phone: 6672054295

Email: harrisjac@kennedykrieger.org

Results disclosure agreements

• Principal investigator is a sponsor employee
• Publication restrictions are in place