AAV-mediated gene therapy approach: Agilis Biotherapeutics

Quick Overview

Agilis Biotherapeutics is working on a gene therapy approach for Angelman Syndrome using adeno-associated virus (AAV) delivery. The company has received orphan drug designation and orphan medicinal product status for their gene therapy programs. They have conducted preclinical work in mouse models and are currently evaluating their lead candidate in an Angelman Syndrome rat model. Agilis plans to complete safety studies in 2018 and aims to begin clinical trials by the end of 2019. They are also involved in developing outcome assessments and biomarkers for the clinical trials. The company is exploring different strategies, including AAV gene therapy and AAV secreted protein therapy, to target neurons and improve synaptic function and learning and memory deficits associated with Angelman Syndrome.


In this talk, we will discuss the AAV-mediated gene therapy approach being developed by Agilis Biotherapeutics for the treatment of Angelman Syndrome. We will provide an overview of the company’s research and development efforts, as well as the progress made in preclinical studies. Additionally, we will highlight the challenges and future steps involved in bringing this therapy to clinical trials.


Agilis Biotherapeutics is a biotechnology company based in Cambridge, Massachusetts, focused on developing innovative gene therapies for rare central nervous system (CNS) disorders, including Angelman Syndrome. The company was founded in 2013 and has since been actively involved in all aspects of gene therapy design and development.

AAV Delivery and Targeting

One of the key considerations in gene therapy is the choice of adeno-associated virus (AAV) serotype for delivery. Agilis Biotherapeutics has been evaluating different serotypes to determine the most effective one for targeting specific cell types and regions in the body. Additionally, the company is exploring various routes of administration, such as peripheral administration or direct injection into the brain, to optimize the delivery of the viral vector.

Pipeline and Orphan Drug Designation

Agilis Biotherapeutics has several gene therapy programs in its pipeline, including AADC deficiency, Friedreich’s ataxia, and Angelman Syndrome. All three programs have received orphan drug designation and orphan medicinal product status, which provide economic incentives and regulatory support for the development of therapies for rare diseases.

Drug Development Process

The drug development process for gene therapy involves several stages, including preclinical work, clinical trials, and regulatory approval. Agilis Biotherapeutics has been conducting extensive preclinical studies to evaluate the safety and efficacy of its gene therapy approach in animal models of Angelman Syndrome. These studies have shown promising results in restoring UBE3A protein levels, improving synaptic function, and enhancing learning and memory.

Next Steps

Agilis Biotherapeutics plans to complete safety studies in 2018 to determine the optimal dosage and assess the risk-benefit profile of its gene therapy. The company will also focus on manufacturing the viral vector and developing the Phase 1 clinical trial protocol. The goal is to initiate clinical trials by the end of 2019.


Agilis Biotherapeutics is making significant progress in the development of an AAV-mediated gene therapy for Angelman Syndrome. The company’s research and preclinical studies have demonstrated the potential of this approach to restore UBE3A protein levels and improve synaptic function. With ongoing efforts in safety studies and manufacturing, Agilis Biotherapeutics aims to bring this therapy to clinical trials and ultimately provide a treatment option for individuals with Angelman Syndrome.

Talk details

  • Title: AAV-mediated gene therapy approach: Agilis Biotherapeutics
  • Author(s): Jenn Daily, Edwin Weeber
  • Author(s)’ affiliation: Agilis Biotherapeutics; University of South Florida
  • Publication date: 2017-12-22
  • Collection: 2017 FAST Science Summit