Nutritional Ketone Formula Trial Recruiting Angelman Syndrome Patients

Jan 31, 2019 | Angelman Syndrome, Diet, Ketones

Disruptive Nutrition, the keto-medical foods company subsidiary of Disruptive Enterprises, a health and wellness venture—in collaboration with Monroe Carell Jr. Children’s Hospital at Vanderbilt and University of South Florida—are leading a clinical study focusing on Angelman Syndrome. The goal of the study is to explore the safety and tolerability of a nutritional formula supplemented with ketones for use in dietary interventions. Some key funding originates from the Foundation for Angelman Syndrome Therapeutics (FAST).

Angelman syndrome is a genetic disorder affecting mainly the nervous system. In addition to physical symptoms such as a small head and a specific facial appearance, severe intellectual disability, developmental disability, speaking problems and many other serious issues can be present. There is no cure. It affects 1 in 12,000 – 20,000 people

The trial sponsors plan to include approximately 15 youth (4-11), who have genetically confirmed Angelman syndrome and a variety of dietary backgrounds. The youth will be randomly assigned to take a nutritional formulation containing exogenous ketones or a placebo dietary supplement for 16 weeks. Ketone usage by the brain can improve its energy reserves—and helps protect the brain from inflammation and oxidative stress.   TrialSite News includes a summary of the trial from

Low carbohydrate diets such as the ketogenic (KD) and low glycemic index (LGIT) diets have been shown to be effective in treating drug resistant seizures in children with Angelman syndrome (AS). The investigators hypothesize that consuming a fat based nutritional formulation with an exogenous ketone throughout the day will produce urinary ketosis in children consuming both low and high carbohydrate diets, depending upon dietary background. The nutritional formulation will provide fuel substrates that push metabolism away from carbohydrates and towards fat utilization. This research is being done to assess the safety and tolerability of a nutritional formulation for use in dietary interventions in AS.

Lead Research/Investigator

Jessica Duis, MD, MS


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