Rare Disease and a Repeatable Process

June 1, 2022 / by Evan Camden

Of all the presentations at the American Society of Gene & Cell Therapy (ASGCT) Annual Meeting, a presentation by renowned physician and geneticist Dr. Francis Collins caught our attention. In his talk, Dr. Collins spotlighted an encouraging path forward in the treatment of rare diseases with cell and gene therapies. While acknowledging that gene therapy is being taken to new heights in many areas, he noted there are still thousands of diseases that have not yet had a focus for treatment development.

Identifying the Issue
Thanks to the work Dr. Collins and several other collaborators with the Human Genome Project, scientists and researchers have identified mutations for almost 7,000 disorders, and are committed to making the information available for all. Despite this work, only about 500-600 of those have an FDA-approved therapy. Dr. Collins’ approach could help speed some of these therapies through the approval process.

A Different Process
Within the cell and gene therapy sector, improvements continue to extend applications, with many potential therapies submitted to the FDA for approval. In the current landscape, submitted drugs are often one-offs and are expensive.

Dr. Collins believes there needs to be, “a transformative approach developing regulatory innovations to bridge the gap between science and tech,” suggesting platforms and processes that leverage successful gene therapies be used to create a repeatable process. To develop this process, he proposed a standard approach with a vector that has gone through testing for safety and efficacy, with a gene insert used for different therapy targets.

In Vivo Gene Editing
To accomplish this goal, Dr. Collins presented in vivo gene editing as the most promising path forward. While he acknowledged the eventual approach could be something other than gene editing, gene editing is not limited to gene replacement. That means the process could be applicable to any genetic disorder with a known causative mutation. Already, the Bespoke Gene Therapy Consortium (BGTC) of the Accelerating Medicines Project (AMP) has made headway, creating a public/private partnership to address challenges in manufacturing of, and access to, AAV vectors.

The BGTC aims to make gene therapy more accessible by creating a platform approach to deliver novel therapies for many different genetic disorders. At a cost of $80.5 million over five years, the BGTC is the largest effort of its kind to streamline the development of therapies for rare diseases, bringing together the resources of 34 partner organizations spanning the public, private and nonprofit sectors.

Aldevron’s parent company, Danaher Corporation, recently announced it had joined the consortium to help provide new technologies and services that enable the advancement of breakthrough genomic medicines.

Purpose
Towards the end of the presentation, Dr. Collins shared a quote that many in the sector probably resonate with: “Hope in every sphere of life is a privilege that attaches to action. No action, no hope.” Hope is what many patients have, and the companies working towards therapies are the action.

• Want to learn more about this topic? Contact us with your questions
• Have an idea for a topic? Let us know!
• Read our blog post, Shining a Light on Rare Diseases