Background on PTC and their Gene Therapy Program in Angelman Syndrome

Quick Overview

Stephanie Ciarlone, from PTC Therapeutics, provided an overview of PTC and their gene therapy program for Angelman Syndrome at the 2020 FAST Science Summit. PTC is a biopharmaceutical company focused on therapies for rare genetic disorders. They have a global presence and are committed to bringing innovative therapies to patients in need. PTC has a robust pipeline of potential medicines, including gene therapy programs. For Angelman Syndrome, PTC is developing a gene therapy that delivers the missing UBE3A gene using an engineered viral vector. They have conducted preclinical studies in animal models and have seen increased UBE3A expression and improvements in neurological function. PTC is working to develop the necessary animal studies to support clinical trials and has acquired a biologics facility for manufacturing. They encourage participation in the Global Angelman Registry and natural history studies to gather data and inform the design of successful clinical trials.

Introduction

In this talk, Stephanie Ciarlone, a representative from PTC Therapeutics, provides an overview of PTC and their Angelman Syndrome program updates. She discusses PTC’s mission, pipeline, and commitment to patients in the rare disease community.

About PTC Therapeutics

PTC Therapeutics is a global commercial, diversified biopharmaceutical company focused on developing innovative therapies for rare genetic disorders. Founded in 1998, PTC has grown to have a presence in over 50 countries with offices in 20 countries and over 850 employees. The company is dedicated to bringing the best therapies to patients affected by rare disorders.

Gene Therapy Program and Angelman Syndrome

PTC Therapeutics is actively working on gene therapy programs for rare monogenic disorders, primarily in the central nervous system (CNS) and retina. For Angelman Syndrome, PTC is focused on delivering the missing UBE3A gene using an engineered viral vector. The choice of viral vector, AAV serotype, promoters, isoforms, and route of administration are all important considerations in the gene therapy process.

Research and Progress

PTC Therapeutics has conducted in vivo proof of concept work in collaboration with Dr. Weeber’s laboratory at USF. This work demonstrated increased UBE3A expression in AS mouse models using AAV9 and murine UBE3A. They also observed corresponding improvements in behavioral deficits and synaptic plasticity.

Recent work at PTC has explored various routes of administration and optimized vectors. Positive data has shown increased UBE3A expression in the brain, improvements in synaptic plasticity, and phenotypic improvements in AS mice and rats.

Status Update

PTC Therapeutics is actively working to develop the necessary animal studies to support first-in-human clinical trials for Angelman Syndrome. They are also leveraging previous and ongoing AS natural history data to inform the design of their clinical development program. Additionally, PTC has acquired a state-of-the-art biologics facility to establish internal manufacturing capabilities for gene therapy products.

How to Help

Ciarlone encourages parents to participate in initiatives like the Global Angelman Registry and natural history studies. Robust data from these sources can help researchers learn more about Angelman Syndrome and inform the design of successful clinical trials.

In conclusion, PTC Therapeutics is dedicated to developing innovative therapies for rare genetic disorders, including Angelman Syndrome. Their gene therapy program shows promising results, and they are actively working towards clinical trials and manufacturing capabilities to bring these therapies to patients in need.