The first-in-human trial assessed the use of exogenous ketone formulation (KF) in individuals with Angelman syndrome
DOWNERS GROVE, Ill. (December 10, 2021) — FAST, the Foundation for Angelman Syndrome Therapeutics, announces results for a FAST-funded nutritional trial to determine the tolerability and efficacy of exogenous ketone formulation (KF) from trumacro™ Nutrition in individuals with Angelman syndrome (AS). The first-in-human trial was established as a follow-up to preclinical work suggesting an exogenous ketone improved motor development, seizure activity and learning in a mouse model of Angelman syndrome.
In nutritional ketosis, the blood concentration of ketones are significantly above baseline. The high rate of refractory seizures in Angelman syndrome led to developing diets to serve the individual’s complex needs. The study demonstrated that the specialized ketogenic formulation from trumacro Nutrition was well tolerated in children with Angelman syndrome over a short-term period.
The ketogenic medical food positively affected constipation, a common symptom in AS that may correlate with the severity of other conditions associated with AS, including seizures, aberrant behaviors and sleep quality. In addition, there were early trends toward improvement in fine motor skills on the Vineland Adaptive Behavior Scales. A decrease in delta power on electroencephalography (EEG) and auditory event-related potentials (AERP) were recorded, which suggests an objective improvement in memory and cognition. Due to the small nature of this trial and the heterogenicity of the population included, a larger long-term study is needed to determine efficacy.
“This was the first clinical trial in this age range, and the baseline data collected has offered insights into outcome measures in many phase I/II trials planned or currently underway in Angelman syndrome,” said Dr. Jessica Duis, assistant professor of pediatrics at University of Colorado School of Medicine. “While more studies are needed, we are excited about the prospect of use of this formulation to improve the quality of life of individuals with Angelman syndrome, as it may offer the opportunity to safely liberalize very restrictive low carbohydrate diets to ensure the same benefit even with the introduction of preferred foods.”
“The results from this early safety and tolerability study are promising for individuals living with Angelman syndrome,” said Dr. Allyson Berent, chief science officer for the Foundation for Angelman Syndrome Therapeutics (FAST). “There is robust data showing the benefit of modified ketogenic diets positively impacting individuals with seizures and other neurodevelopmental delays, and finding a medical food that would manage the metabolic aspects of these symptoms, while not having to be on prohibitively restrictive diets, would dramatically improve the quality of life of those living with Angelman syndrome.”
The nutritional trial was outlined to support a significant unmet need for targeted nutritional support for individuals with Angelman syndrome. The study was a double-blind, placebo-controlled crossover trial that occurred over 16 weeks. A total of 13 patients with Angelman syndrome completed the study.
For more information on the Foundation for Angelman Syndrome Therapeutics (FAST), please visit www.cureangelman.org. Keep up with the latest news from FAST on Facebook, Twitter, Instagram and LinkedIn. For more information about the ketogenic formulation from trumacro Nutrition, please visit https://trumacro.com.