Modified Atkins Diet for Kabuki Syndrome

Age: 18+

Sex: Any

Trial Phase: Phase < 1

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

Disqualifiers: Other genetic syndromes, Health problems, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: 4

Duration: 12 weeks

10 Participants Needed

Trial Summary

What is the purpose of this trial?

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.

Will I have to stop taking my current medications?

The trial information does not specify whether you need to stop taking your current medications. It's best to discuss this with the trial coordinators or your doctor.

What data supports the effectiveness of the modified Atkins diet treatment for Kabuki Syndrome?

The modified Atkins diet has shown effectiveness in reducing seizures in patients with epilepsy, with some studies reporting that a significant number of patients experienced a reduction in seizure frequency or became seizure-free. This suggests that the diet may have potential benefits for other conditions, like Kabuki Syndrome, that might involve similar neurological pathways. ^{1 2 3 4 5}

Is the Modified Atkins Diet generally safe for humans?

The Modified Atkins Diet has been used for over a decade in both children and adults, primarily for epilepsy, and is generally considered safe. Some common side effects include changes in lipid levels (fats in the blood) and stomach upset, but it is often better tolerated than the traditional ketogenic diet. ^{1 2 4 5 6}

How does the modified Atkins diet treatment for Kabuki Syndrome differ from other treatments?

The modified Atkins diet is unique because it is a less restrictive version of the ketogenic diet, which does not require fasting or hospitalization and allows for normal protein, calorie, and fluid intake. It has been used successfully for epilepsy, showing similar effectiveness to the ketogenic diet but with better tolerability, making it a novel approach for conditions like Kabuki Syndrome where standard treatments may not exist. ^{1 2 4 5 7}

Eligibility Criteria

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.

Inclusion Criteria

My Kaposi's sarcoma diagnosis follows the latest consensus criteria.

My genetic test shows a mutation in the KMT2D gene.

I am 18 or older with a confirmed diagnosis of Kabuki syndrome type 1.

Exclusion Criteria

I have a condition that makes the modified Atkins diet unsafe for me.

I cannot travel to Baltimore for two appointments 12 weeks apart.

I have been diagnosed with a genetic syndrome.

Timeline

Screening

Participants are screened for eligibility to participate in the trial

2 days

1 visit (in-person)

Treatment

Participants follow a Modified Atkins Diet for 12 weeks with regular monitoring and assessments

12 weeks

Weekly data submission, blood and urine samples every 3 weeks

Follow-up

Participants are monitored for safety and effectiveness after treatment

4 weeks

Treatment Details

Interventions

• Modified Atkins diet

Trial Overview 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.

Participant Groups

Group I: MAD diet group Experimental Treatment 1 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.

Who Is Running the Clinical Trial?

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

Lead Sponsor

Trials

93

Recruited

25,200+

Findings from Research

The modified Atkins diet, used since 2003 for treating refractory epilepsy, has shown similar effectiveness to the traditional ketogenic diet while being more tolerable for patients, with around 400 patients reported across over 30 studies.

This diet can be initiated in a clinical setting without the need for fasting or hospitalization, making it a more accessible option for both children and adults with intractable seizures.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

A decade of the modified Atkins diet (2003–2013): Results, insights, and future directions. Kossoff, EH., Cervenka, MC., Henry, BJ., et al.[2019]

In a study involving four adult patients with drug-resistant epilepsy, the modified Atkins diet led to a significant average reduction of 35% in serum concentrations of antiepileptic drugs (AEDs) after 12 weeks, indicating a potential pharmacokinetic interaction.

This reduction in AED levels could have clinical implications for patients, suggesting that careful monitoring of AED serum concentrations is necessary when implementing the modified Atkins diet as an add-on therapy.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Modified Atkins diet may reduce serum concentrations of antiepileptic drugs. Kverneland, M., Taubøll, E., Selmer, KK., et al.[2018]

In a study of 87 children on the modified Atkins diet for epilepsy, 55% of those who continued for over 6 months experienced more than a 50% improvement in seizures, and 35% became seizure-free after an average of 19.9 months.

The diet showed similar efficacy to short-term studies and long-term ketogenic diets, but side effects included increased lipid levels and gastrointestinal issues, indicating the need for monitoring during treatment.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Long-term follow-up of children treated with the modified Atkins diet. Chen, W., Kossoff, EH.[2017]

The modified Atkins diet (MAD) was tested in a prospective study involving five children aged 4-18 years with Sturge-Weber syndrome, showing promising results in managing intractable seizures over a 6-month period.

All participants achieved urinary ketosis and experienced improvements in seizure frequency, with three children reporting more than a 50% reduction in seizures, suggesting that MAD may be a safer alternative to the ketogenic diet for this population.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

A pilot study of the modified Atkins diet for Sturge-Weber syndrome. Kossoff, EH., Borsage, JL., Comi, AM.[2010]

The Modified Atkins Diet (MAD) significantly improved seizure control in patients with intractable epilepsy, reducing daily seizure frequency from an average of 13.29 to 2.71 over nine months.

Mothers of the patients also experienced a significant improvement in their quality of life across all domains measured, indicating that MAD not only benefits the patients but also positively impacts their caregivers.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Experience with MAD on children with epilepsy in Egypt after classic KD failure. El Rashidy, OF., Nassar, MF., El Gendy, YG., et al.[2018]

References

1. United States pubmed.ncbi.nlm.nih.gov

A decade of the modified Atkins diet (2003–2013): Results, insights, and future directions. [2019]

2. Netherlands pubmed.ncbi.nlm.nih.gov

Efficacy and tolerability of modified Atkins diet in Japanese children with medication-resistant epilepsy. [2022]

3. Netherlands pubmed.ncbi.nlm.nih.gov

Effects of the ketogenic diet therapy in patients with STXBP1-related encephalopathy. [2022]

4. Denmark pubmed.ncbi.nlm.nih.gov

Modified Atkins diet may reduce serum concentrations of antiepileptic drugs. [2018]

5. United States pubmed.ncbi.nlm.nih.gov

Long-term follow-up of children treated with the modified Atkins diet. [2017]

6. Netherlands pubmed.ncbi.nlm.nih.gov

A pilot study of the modified Atkins diet for Sturge-Weber syndrome. [2010]

7. Denmark pubmed.ncbi.nlm.nih.gov

Experience with MAD on children with epilepsy in Egypt after classic KD failure. [2018]