A Clinical Trial Assessing the Benefits of Using an Exogenous Ketone Supplement in the Management of Angelman Syndrome

Quick Overview

This presentation discusses a clinical trial that assessed the benefits of using an exogenous ketone supplement in the management of Angelman syndrome. The study aimed to evaluate the safety and tolerability of the supplement and assess its impact on seizures, sleep quality, mobility, cognition, and other factors. The trial included 12 individuals with Angelman syndrome, and so far, seven have completed the study. The results showed that the supplement was well-tolerated and had potential benefits for individuals with Angelman syndrome. The study also collected data on sleep patterns and gait, providing valuable insights into these aspects of the syndrome. The researchers plan to analyze the data further and make it widely available for future studies. The supplement requires a prescription and should be used under medical supervision. It can be used in conjunction with any diet.

Introduction

In this presentation at the 2019 FAST Science Summit, Dr. Jessica Duis and Dr. Donna Herber from the Disruptive Nutrition team discuss their clinical trial on the use of an exogenous ketone supplement in the management of Angelman syndrome. They emphasize the importance of sharing data and working together for the betterment of children with Angelman syndrome.

Background

The researchers explain that previous studies have shown the benefits of changing the body’s fuel to ketones in individuals with seizures. This has traditionally been achieved through diet, such as the ketogenic diet or low glycemic index therapy. Additionally, a study funded by FAST and conducted by Dr. Weeber showed the benefits of using a ketone ester in a mouse model of Angelman syndrome.

Medical Foods and Study Design

The researchers introduce the concept of medical foods, which are used to augment diet therapies. Their goal in this study was to develop a formulation that would allow individuals on a restricted diet to have some dietary flexibility. The study was designed to evaluate the safety and tolerability of the formulation, and participants were randomized to receive either the study formulation or a placebo.

Study Results

The researchers provide an overview of the study’s recruitment and enrollment numbers, as well as the baseline characteristics of the participants. They discuss the safety profile of the formulation, noting that no study-related adverse events were reported. The formulation was well-tolerated by participants, with most individuals able to consistently take it as prescribed. Parents reported that their children enjoyed the flavor of the formulation and requested it even after the trial ended.

The researchers also analyzed ketone levels in the urine and blood of participants. They found that baseline ketone levels were not reflective of the specific diet the individuals were on, but rather seemed to be related to sensitivity to fasting. Importantly, no participants developed acidosis, a concern when using exogenous ketones.

Challenges and Future Directions

The researchers discuss the challenges they faced during the study, including difficulties with at-home measurements and device reliability. They highlight the importance of simplifying data collection methods for future studies. They also mention the potential of using outcome measures collected during clinic visits to reduce the burden on participants and their families.

Conclusion

In conclusion, the researchers state that the exogenous ketone supplement was safe and well-tolerated by individuals with Angelman syndrome. They plan to unblind the data and analyze it further to extract additional insights. They express their gratitude to the families who participated in the study and announce plans to expand the trial internationally in 2020.

Implications and Next Steps

The researchers emphasize that the exogenous ketone supplement should be used under the supervision of a physician and in conjunction with medical advice. They provide information on how to obtain the formulation and recommend consulting with a neurologist or other healthcare professional familiar with Angelman syndrome. They also mention the availability of an open-label extension for families who wish to continue using the formulation.

The researchers plan to make the study data widely available in early 2020 to aid in the design of future clinical trials. They highlight the importance of collaboration and sharing data to advance research in Angelman syndrome.

Q&A Session

During the Q&A session, the researchers address questions about the need for a prescription, the type of doctor to consult, and the need for a special diet while taking the supplement. They provide detailed answers and emphasize the individualized nature of the treatment approach.

Conclusion

Dr. Jessica Duis and Dr. Donna Herber present the findings of their clinical trial on the use of an exogenous ketone supplement in the management of Angelman syndrome. They highlight the safety and tolerability of the formulation and discuss the challenges faced during the study. The researchers emphasize the importance of collaboration and sharing data to advance research in Angelman syndrome.