Evaluation of the safety and tolerability of a nutritional Formulation in patients with ANgelman Syndrome (FANS): study protocol for a randomized controlled trial

Trials

卷:21

Donna L. Herber¹  Jessica Duis²  Dominic P. D’Agostino³  Edwin J. Weeber⁴ 

[1] Disruptive Nutrition, LLC;

[2] Division of Medical Genetics & Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center;

[3] Morsani College of Medicine, Department of Molecular Pharmacology and Physiology, University of South Florida;

[4] PTC Therapeutics, Inc.;

关键词: Ketogenic diet;    Ketosis;    Angelman syndrome;    Placebo-controlled trial;    Children;    Exogenous ketone;   

DOI  :  10.1186/s13063-019-3996-x

来源: DOAJ

【 摘 要 】

Abstract Background Ketogenic and low-glycemic-index diets are effective in treating drug-resistant seizures in children with Angelman syndrome. Cognition, mobility, sleep, and gastrointestinal health are intrinsically linked to seizure activity and overall quality of life. Ketogenic and low-glycemic diets restrict carbohydrate consumption and stabilize blood glucose levels. The ketogenic diet induces ketosis, a metabolic state where ketone bodies are preferentially used for fuel. The use of exogenous ketones in promoting ketosis in Angelman syndrome has not been previously studied. The study formulation evaluated herein contains the exogenous ketone beta-hydroxybutyrate to rapidly shift the body towards ketosis, resulting in enhanced metabolic efficiency. Methods/design This is a 16-week, randomized, double-blind, placebo-controlled, crossover study to assess the safety and tolerability of a nutritional formula containing exogenous ketones. It also examines the potential for exogenous ketones to improve the patient’s nutritional status which can impact the physiologic, symptomatic, and health outcome liabilities of living with Angelman syndrome. Discussion This manuscript outlines the rationale for a study designed to be the first to provide data on nutritional approaches for patients with Angelman syndrome using exogenous ketones. Trial registration ClinicalTrials.gov, ID: NCT03644693. Registered on 23 August 2018. Last updated on 23 August 2018.

【 授权许可】

Unknown