Status:
COMPLETED
Study of Modified Atkins Diet in Kabuki Syndrome
Lead Sponsor:
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Conditions:
Kabuki Syndrome
Eligibility:
All Genders
18+ years
Phase:
EARLY_PHASE1
Brief 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 hi...
Detailed Description
Consented participants will participate in an initial 2 day study visit. These participants will undergo cognitive and neurobehavioral testing and also will have baseline labs drawn and will meet with...
Eligibility Criteria
Inclusion
- 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
- 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
Key Trial Info
Start Date :
April 1 2021
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
March 12 2025
Estimated Enrollment :
10 Patients enrolled
Trial Details
Trial ID
NCT04722315
Start Date
April 1 2021
End Date
March 12 2025
Last Update
May 13 2025
Active Locations (1)
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1
Kennedy Krieger Institute
Baltimore, Maryland, United States, 21205