Posters

Presenting Author Academic/Professional Position

Elena Dike

Academic Level (Author 1)

Medical Student

Discipline Track

Clinical Science

Abstract Type

Research/Clinical

Abstract

Prader–Willi Syndrome (PWS) is a rare genetic disorder caused by loss of paternal expression in the 15q11–q13 region, with the SNORD116/SNHG14 cluster most strongly linked to hyperphagia. This hyperphagia is a major cause of morbidity in PWS. Vykat, a recently approved FDA drug to treat hyperphagia in PWS acts by opening KATP channels in pancreatic β-cells, thereby reducing insulin secretion and indirectly improving satiety. This presentation aims to highlight the central hypothalamic dysfunction from genetic imprinting defects and the peripheral action of Vykat. While Vykat represents a significant advance, especially for individuals with severe hyperphagia, it does not address the underlying genetic and hypothalamic pathology. Future pharmacologic approaches may need to focus on combining pharmacology with genetics to provide comprehensive disease management in PWS.

Presentation Type

Poster

Share

COinS
 

Bridging Genetics and Pharmacology: Diazoxide Choline XR (Vykat) in the Treatment of Hyperphagia in Prader–Willi Syndrome

Prader–Willi Syndrome (PWS) is a rare genetic disorder caused by loss of paternal expression in the 15q11–q13 region, with the SNORD116/SNHG14 cluster most strongly linked to hyperphagia. This hyperphagia is a major cause of morbidity in PWS. Vykat, a recently approved FDA drug to treat hyperphagia in PWS acts by opening KATP channels in pancreatic β-cells, thereby reducing insulin secretion and indirectly improving satiety. This presentation aims to highlight the central hypothalamic dysfunction from genetic imprinting defects and the peripheral action of Vykat. While Vykat represents a significant advance, especially for individuals with severe hyperphagia, it does not address the underlying genetic and hypothalamic pathology. Future pharmacologic approaches may need to focus on combining pharmacology with genetics to provide comprehensive disease management in PWS.

 

To view the content in your browser, please download Adobe Reader or, alternately,
you may Download the file to your hard drive.

NOTE: The latest versions of Adobe Reader do not support viewing PDF files within Firefox on Mac OS and if you are using a modern (Intel) Mac, there is no official plugin for viewing PDF files within the browser window.