Making gene therapies for rare diseases accessible

Professor Claire Booth, consultant Paediatric Immunologist and researcher, reflects on the first meeting of the Access to Gene Therapies for Rare Disease (AGORA) initiative, following publication in Nature Medicine. 

As a paediatric immunologist and gene therapist, I have seen first-hand the complex and life limiting effects of ultra-rare diseases including problems with the immune system – our bodies defence against disease, and the metabolic system. They affect <1 in 50,000 people but for each child, the impacts are vast and serious.  

What is most upsetting is that despite decades of research, financial investment and hope for curative gene therapies, it’s almost impossible to bring these treatments to market, to make them accessible to patients. This is an extremely complex, cross-border issue and is what the AGORA initiative hopes to address. It’s an urgent initiative as the lives of thousands of patients and the future of gene therapies are at stake. 

What happened at Great Ormond Street Hospital (GOSH)? 

The first AGORA meeting in September 2022 was hosted at GOSH and brought researchers, clinicians, patient organisations, funders, regulatory agencies and industry partners from across Europe around the table for the first time to openly discuss the causes of the complex issues and to map a way forward. GOSH is well placed to contribute to this effort as our clinicians regularly see patients with rare diseases and our researchers focus on developing novel therapies for these devastating conditions. We have pioneered gene therapy research alongside building dedicated cell and gene therapy facilities.

Significant questions were addressed in the discussion such as: 

• What is the necessary amount of evidence required for gene therapies to progress through regulatory approvals, particularly where patient numbers are small so trials more costly, and where these patients have limited other options?  
• Are patients involved sufficiently throughout the regulatory process, and are the outcomes that matter most to them considered?  
• How can the cost barriers for regulatory approvals be tackled for gene therapy developers from academia, small and medium enterprises as well as larger commercial organisations? 

What happens next? 

The next step is to explore solutions. Regulation is all about ensuring safety of new therapies, and it was proposed that by following the same processes for therapy production, regulatory approach and collation of data, we could reduce costs, de-risk and streamline the safety assessment processes.  

I am looking forward to continuing this work that will ensure there is a future for gene therapy for rare disease, where the lives of thousands of patients are at stake.  

To find out more about AGORA, you can read our article on the GOSH website.