According to a story from BioPortfolio, the keto-medical nutrition company Disruptive Nutrition recently announced that the first patient had been enrolled in a research study which will test a unique nutritional formula of exogeneous ketones. This formula will be tested for tolerability and safety in patients with the rare disorder Angelman syndrome. This research was grant-funded by the Foundation for Angelman Syndrome Therapeutics (FAST).
About Angelman Syndrome
Angelman syndrome is a type of genetic disorder that impacts the nervous system. This disorder is not inherited from parents, but instead occurs as a spontaneous genetic alteration, typically the deletion of a segment from chromosome 15 called UBE3A. A mutation of this gene can also caused Angelman syndrome. Symptoms of this disorder can include seizures, developmental delays, a small head, an excited and happy demeanor, trouble with balance and movement, intellectual disability, and speech issues. Patients may share certain facial characteristics. Symptoms become noticeable at about one year old. Treatment is supportive and symptomatic, and there is currently no cure. Patients have a strong desire for social interaction, and despite limited language are able to understand much of what is happening around them. Life expectancy is generally close to that of an unaffected person. To learn more about Angelman syndrome, click here.
Nutrition and Angelman Syndrome
Patients with Angelman syndrome have the potential to benefit significantly from nutritional therapy which, along with other measures, can help manage more serious symptoms such as seizures. This study will hopefully provide useful information in regards to how this patient population can see improvements with a ketogenic diet.
About The Study
This 16 week study will include Angelman syndrome patients between the ages of four and eleven. The study will include periods of intervention, in which the dietary supplement will be introduced, and “washout” when the residual effects of the formula will be assessed. Various measures, such as blood metabolism, neurodevelopment, cognition, seizure and diet history, and mobility will be monitored and accounted for.
FAST is a nonprofit organization which is dedicated to funding the most promising research that may lead to improved therapies for Angelman syndrome. To learn more about their activities, visit their website here.