Angelman Overview

Quick Overview

In this presentation, Allyson Berent discusses the current state of research and potential therapies for Angelman Syndrome. She emphasizes the importance of understanding the genetics behind the disorder and the need for both gene replacement therapy and downstream therapeutics. Berent highlights the progress that has been made in gene therapy and activating the paternal allele, as well as the ongoing research in downstream therapeutics. She also emphasizes the need for patient-centered outcome measures and biomarkers to measure the effectiveness of treatments. Berent concludes by expressing gratitude to the research community and the families for their support and dedication to finding a cure for Angelman Syndrome.

Introduction

Hello everyone, my name is Allyson Berent. I am the mother of Quincy, a four-year-old girl with Angelman Syndrome. I am also the chief science officer of FAST (Foundation for Angelman Syndrome Therapeutics) and the chief operating officer of Genetics Biotherapeutics. Today, I want to talk about the importance of understanding Angelman Syndrome and its genetics, as well as the various therapeutic options available for our children.

Understanding Angelman Syndrome

Angelman Syndrome is a disorder caused by a single gene called UBE3A. While some children may have multiple genes affected if they have a deletion, all children with Angelman Syndrome have the UBE3A gene affected. It is important to understand the genetics behind Angelman Syndrome in order to make informed decisions about potential therapies for our children.

Therapeutic Options

There are two main categories of therapeutic options for Angelman Syndrome: upstream and downstream therapeutics. Upstream therapeutics focus on replacing or activating the UBE3A gene so that the missing gene can start working. Downstream therapeutics, on the other hand, aim to address the symptoms of Angelman Syndrome, such as seizures or motor abnormalities.

Importance of Safety and Therapeutic Window

When considering any therapeutic option, safety is the number one priority. It is crucial to ensure that any treatment is safe for our children. Additionally, it is important to understand that the therapeutic window, or the optimal time for treatment, may vary for each individual. While research in animal models can provide some insights, it is ultimately necessary to conduct clinical trials in humans to fully understand the effects of different therapeutics.

Promising Therapeutics

There are several promising therapeutic options currently being explored for Angelman Syndrome. Gene replacement therapy and protein replacement therapy aim to replace or activate the UBE3A gene. Paternal gene activation, using antisense oligonucleotides or artificial transcription factors, is another approach being investigated. Additionally, downstream therapeutics such as GABA replacement therapy, ketone supplements, and IGF-2 ligands are also being explored.

Roadmap to Success

In order to bring these therapeutics to clinical trials, it is important to investigate new genetic and therapeutic strategies, identify symptomatic treatments, and prepare for clinical trials. This involves gathering patient-centered outcome measures and biomarkers, as well as participating in the Global Angelman Registry.

Conclusion

The field of Angelman Syndrome research is rapidly advancing, with numerous therapeutic options being explored. It is important for parents and caregivers to understand the genetics of Angelman Syndrome and the potential therapeutic options available. By staying informed and participating in research efforts, we can work towards improving the lives of our children with Angelman Syndrome.