What is the mechanism of action of this treatment?

The Modified Atkins Diet, being studied for Kabuki Syndrome, functions primarily through histone deacetylase inhibition. This mechanism is significant because it can lead to changes in gene expression that may improve cognitive function. In animal models of Kabuki Syndrome, this diet has shown promise in reversing cognitive deficits, making it a potentially safer and more tolerable alternative to the full ketogenic diet. For Kabuki Syndrome patients, this could mean improved cognitive outcomes and better quality of life.

What side effects are associated with this type of intervention?

The most common treatments for Kabuki Syndrome, particularly those involving the Modified Atkins Diet (which includes histone deacetylase inhibition), can lead to gastrointestinal issues such as constipation, diarrhea, and abdominal pain. Other potential side effects include nutrient deficiencies, elevated cholesterol levels, and kidney stones.

What prior FDA approvals exist?

There are no specific FDA-approved treatments for Kabuki Syndrome mentioned in the provided context. The Modified Atkins Diet is being studied for its potential cognitive benefits in Kabuki Syndrome due to its histone deacetylase inhibition properties. This diet is considered safer and easier to tolerate than a full ketogenic diet, which has shown cognitive improvement in animal models of Kabuki Syndrome.

What other types of research exist?

Currently, there are no specific novel alternatives to the Modified Atkins Diet for Kabuki Syndrome patients mentioned in the provided context. The Modified Atkins Diet remains a promising approach due to its histone deacetylase inhibition properties and cognitive benefits observed in animal models.

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Dietary Supplement

Modified Atkins Diet for Kabuki Syndrome

Phase < 1

Waitlist Available

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

Eligibility Criteria Checklist

Specific guidelines that determine who can or cannot participate in a clinical trial

Must have

Genetic confirmation of a pathogenic mutation in KMT2D

Be older than 18 years old

Must not have

presence of another known genetic syndrome

Timeline

Screening 3 weeks

Treatment Varies

Follow Up every 3 weeks for 12 weeks

Awards & highlights

No Placebo-Only Group

Summary

This trial tests if a Modified Atkins diet can improve cognitive functions in adults with Kabuki syndrome. The diet is easier to follow than a full ketogenic diet and may help by changing gene activity in the brain. Participants will follow the diet for a few months and undergo various tests to measure any improvements. The Modified Atkins Diet has shown preliminary efficacy in treating various conditions, including epilepsy and movement disorders, by inducing mild to moderate ketosis.

Who is the study for?

This trial is for adults over 18 with Kabuki syndrome type 1, confirmed both clinically and genetically. Participants must be able to follow a modified Atkins diet and travel to Baltimore twice over 12 weeks. Those with health issues that make the diet risky or another genetic syndrome cannot join.

What is being tested?

The study tests if a modified Atkins diet can improve cognitive function in adults with Kabuki syndrome. It's based on animal studies showing benefits from ketogenic diets. Over 12 weeks, participants will switch to this safer, more tolerable diet variant.

What are the potential side effects?

While not specified here, potential side effects of a modified Atkins diet may include fatigue, headache, constipation or other digestive changes initially as the body adapts to lower carbohydrate intake.

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below

Select...

My genetic test shows a mutation in the KMT2D gene.

Exclusion Criteria

You may be eligible for the trial if you check “No” for criteria below:

Select...

I have been diagnosed with a genetic syndrome.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ every 3 weeks for 12 weeks

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~every 3 weeks for 12 weeks

This trial's timeline: 3 weeks for screening, Varies for treatment, and every 3 weeks for 12 weeks for reporting.

Treatment Details

Study Objectives

Study objectives can provide a clearer picture of what you can expect from a treatment.

Primary study objectives

Beery Developmental Test of Visual Motor Integration

Beery Developmental Test of Visual Perception

Benton Judgement of Line Orientation

+4 more

Secondary study objectives

Caregiver behavior rating scales: GAS-ID

DNA Methylation analysis

Awards & Highlights

No Placebo-Only Group

All patients enrolled in this study will receive some form of active treatment.

Trial Design

1Treatment groups

Experimental Treatment

Group I: MAD diet groupExperimental Treatment1 Intervention

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.

Treatment

First Studied

Drug Approval Stage

How many patients have taken this drug

Modified Atkins diet

2013

Completed Phase 3

~230

0 / 2Eligibility criteria met

Research Highlights

Information in this section is not a recommendation. We encourage patients to speak with their healthcare team when evaluating any treatment decision.

Mechanism Of Action

Side Effect Profile

Prior Approvals

Other Research

The Modified Atkins Diet, being studied for Kabuki Syndrome, functions primarily through histone deacetylase inhibition. This mechanism is significant because it can lead to changes in gene expression that may improve cognitive function. In animal models of Kabuki Syndrome, this diet has shown promise in reversing cognitive deficits, making it a potentially safer and more tolerable alternative to the full ketogenic diet. For Kabuki Syndrome patients, this could mean improved cognitive outcomes and better quality of life.

INFLUENCE OF HDAC INHIBITOR SODIUM BUTYRATE ON THE EXPRESSION OF DNA REPAIR GENES Rad51 AND XRCC5 IN mEras-Waf1+/+ AND mEras-Waf1–/–.Histone deacetylase inhibitors suppress ABO transcription in vitro, leading to reduced expression of the antigens.Effects of Sodium Butyrate Treatment on Histone Modifications and the Expression of Genes Related to Epigenetic Regulatory Mechanisms and Immune Response in European Sea Bass (Dicentrarchus Labrax) Fed a Plant-Based Diet.