Developing Therapies for Angelman Syndrome

Quick Overview

Developing therapies for Angelman syndrome is an ongoing process with multiple approaches being explored. These include antisense oligonucleotides (ASOs), AAV-mediated gene therapy, and CRISPR. ASOs work by preventing the collision between the antisense RNA and UBE3A, while AAV-mediated gene therapy delivers the UBE3A gene or stops the antisense RNA. CRISPR can cut the DNA and insert a stop sign or create a barrier to prevent the collision. Biomarkers are being used to measure the effectiveness of these therapies, and outcome measures are being developed to assess functional improvements. Clinical trials are being conducted, and families can participate by contacting clinics or registering in databases. The goal is to develop therapies that can benefit individuals with different genotypes of Angelman syndrome.

Welcome to the third night of the 2021 ASF Virtual Family Conference. Tonight, we have an exciting panel discussion on developing therapeutics for Angelman Syndrome. Our goal is to demystify the process and provide a foundational understanding of therapeutic development and clinical trials. We encourage you to ask questions and participate in the discussion.

Introduction

Amanda Moore, the host of the conference, introduces the panelists: Liz Jalazo, clinic director at the Angelman Syndrome Foundation and parent of a child with Angelman Syndrome, Stormy Chamberlain, associate professor of genetics at the University of Connecticut, and Dr. Lynne Bird, professor of pediatrics and clinical geneticist at Rady Children’s Hospital in San Diego.

Understanding Angelman Syndrome

Stormy Chamberlain provides an overview of Angelman Syndrome, explaining that it is caused by the loss of the UBE3A gene in neurons. She discusses the role of UBE3A in labeling proteins for disposal and the different genetic mutations that can lead to Angelman Syndrome.

Therapeutic Approaches

Stormy Chamberlain explains the different therapeutic approaches being explored for Angelman Syndrome. She discusses antisense oligonucleotides (ASOs), which prevent the collision between the antisense RNA and UBE3A, and AAV-mediated gene therapy, which delivers the UBE3A gene or stops the antisense RNA. She also mentions the use of CRISPR technology to insert a stop sign in the DNA to prevent the production of antisense RNA.

Biomarkers and Outcome Measures

Liz Jalazo discusses the importance of biomarkers in evaluating the effectiveness of therapeutics for Angelman Syndrome. She explains that biomarkers can indicate whether the therapeutic is functioning and whether it is improving the condition of individuals with Angelman Syndrome. She also mentions the Angelman Biomarker and Outcome Measures Consortium, which aims to identify meaningful outcome measures and biomarkers in Angelman Syndrome.

Clinical Trials and Participation

The panelists address questions about clinical trials and participation. They explain the process of enrolling in a clinical trial and the importance of participating in natural history studies. They also discuss the potential for different therapeutic treatments to benefit individuals with different genotypes of Angelman Syndrome.

Future Developments

The panelists express their excitement about the progress being made in therapeutic development for Angelman Syndrome. They discuss the potential for improved delivery methods and the optimization of different therapeutic approaches. They emphasize the importance of continued research and collaboration in the field.

Conclusion

The panel discussion concludes with a reminder to visit the Angelman Syndrome Foundation website for more information on clinics and clinical trials. The panelists thank the audience for their participation and encourage them to stay engaged in the research and development of therapies for Angelman Syndrome.