Nutritional Formulation for Patients with Angelman Syndrome: A Randomized, Double-Blind, Placebo-Controlled Study of Exogenous Ketones

Thirteen participants aged 4 to 11 years with molecularly confirmed Angelman syndrome completed a 16-week randomized, double-blind, placebo-controlled crossover trial of an exogenous medical food ketone formulation (KF). The study had four 4-week phases: baseline, blinded KF or placebo, washout, and crossover. Primary outcomes were safety and tolerability, and one participant exited owing to difficulty consuming the formulation. Adverse events were an increase in cholesterol in 1 subject on KF and a decrease in albumin in 1 subject on placebo. Stool consistency scores were 4.54 +/- 1.19 during KF versus 6.04 +/- 1.61 at baseline and 6.35 +/- 1.55 during placebo (P = 0.0027).