Ketogenic nutrition to be studied in patients with Angelman syndrome

January 8, 2019

The first patient has been enrolled in a clinical study assessing the safety and tolerability of a nutritional formula that contains exogeneous ketones for use in dietary interventions for those with Angelman syndrome. 

The first patient has been enrolled in a clinical study assessing the safety and tolerability of a nutritional formula that contains exogeneous ketones for use in dietary interventions for those with Angelman syndrome. First announced on December 1, 2017, the randomized, double-blind placebo-controlled study is sponsored by Disruptive Nutrition (Durham, NC), a keto-medical foods company, and being conducted in collaboration with investigators from the Monroe Carell Jr. Children’s Hospital at Vanderbilt University, and the University of South Florida, with funding from a grant from the Foundation of Angelman Syndrome Therapeutics (FAST).

Angelman syndrome is a rare genetic disorder caused by the disruption in ubiquitin-protein ligase E3A (UBE3A) gene that is characterized by developmental delays such as speech impairment and movement disorders, as well as seizures that afflict 80% of patients with the syndrome. Low-carb, high-fat diets such as the ketogenic diet are used as a dietary intervention in patients suffering from treatment-resistant seizures.

“This study demonstrates our continued commitment to improving societal wellbeing and scientific advancement of ketogenic technologies for nutritional support of Angelman syndrome and other medical conditions that would potentially benefit from a ketogenic diet,” said Donna Herber, PhD, chief science officer of Disruptive Enterprises, in a press release. “We are grateful for the families that will participate in this study and for our study partners at FAST, Vanderbilt, and USF that are working with us on the scientific advancement of readily accessible and lifestyle appropriate ketogenic technologies.”

The study will take 16 weeks, with subjects 4-11 years of age with genetically confirmed Angelman syndrome. A randomized, double-blind, placebo-controlled crossover design, the protocol will consist of a two-week baseline period, a four-week intervention period, a four-week washout period, a second four-week intervention period, and finally, a two-week washout.

“There is a significant unmet need for targeted nutritional support of patients with Angelman syndrome that could serve as adjunct therapy for the management of refractory seizures,” said Jessica Duis, MD, MS, assistant professor of Pediatrics at Children’s Hospital at Vanderbilt, in a press release. “We expect that this study will generate important insights about ketogenic diets and how they can benefit Angelman syndrome patients.”