UCL News


New consortium to ensure access to gene therapies for children with rare diseases

23 September 2022

A new consortium tackling the growing economic hurdles that prevent life-saving gene therapies from reaching children who need them the most has been co-founded by a UCL researcher.

Gene therapy lab

The group, named AGORA (Access to Gene Therapies for Rare Disease) was launched today (22 September) at London’s Great Ormond Street Hospital for Children (GOSH) and brings together stakeholders from across the UK and Europe who represent academic groups, regulators, funders, patient advocacy groups and drug developers.

It aims to create a sustainable solution for children with rare and ultra-rare diseases to access novel gene therapies that are shown to be effective in clinical trials.

Although there are currently over 140 clinical trials for ultra-rare diseases taking place, only a tiny percentage have resulted in developed, marketed or registered treatment currently available for patients.

Co-founding member of AGORA, Professor Claire Booth (UCL Great Ormond Street Institute of Child Health & GOSH), said: “Together we have developed treatments for patients with rare diseases and seen the transformative, life-changing results gene therapies can offer.

“It is vital that we continue to offer these treatments to patients in need and not let decades of research and huge financial investment go to waste. We can’t just accept that it’s too costly to treat these children.

“AGORA can bring everyone together to find workable solutions to deliver these treatments and use the valuable research knowledge gained for the greater good.”

The first successful gene therapy was administered in 1990 Since then, around 150 gene therapy clinical trials have been undertaken for an estimated 500 patients with rare and ultra-rare diseases. Many of these therapies have enabled children who would have been expected to die in infancy to go on to live a normal, healthy life.

Ultra-rare diseases, including many rare inherited immune and metabolic diseases, are defined as those that affect less than 1 in 50,000. However, these small numbers present huge problems for making therapies available through commercial routes and getting them to the patients that need them.

It is at this stage where development frequently breaks down, especially for those treatments that are rare or ultra-rare, where the projected financial costs of development and authorisation will not be economically viable, given the small potential patient pool.

For example, in the last two years, six gene therapy products have been dropped by commercial manufacturers for these non-medical reasons, leaving no way for patients to access life-saving treatments. As the majority of early-stage research into these therapies is funded through national research programmes, these dropped treatments also represent a huge waste of public money.

For widely used treatments, commercial companies are able to balance production costs with large expected revenues, but for ultra-rare diseases where the patient pool may be as few as 10 patients a year, there is no way to spread costs. Production costs for these treatments are incredibly high due to the need for facilities specialising in complex cell manipulation and very high costs of clinical grade material such as gene transfer vectors and quality testing. In the context of a traditional commercial approach, this results in astronomically high and unrealistic pricing for each patient.

These high treatment costs per patient create a huge challenge for national health services and the  insurance sector to balance the provision of these expensive treatments for the very small cohort of rare disease patients against the demands on their budgets and health care impact metrics for more widely needed treatments.      

Co-founding member of AGORA, Professor Arjan Lankester (Willem-Alexander Children’s Hospital and Leiden University Medical Centre), said: “Innovative treatment of rare diseases, often developed with public money, requires a customised approach to secure sustainable access and we hope to enable this process through this endeavour.”

AGORA will focus initially on ultra-rare diseases which mainly include inborn errors of immunity (genetic diseases causing immune deficiency) and inborn errors of metabolism - for which no equally effective alternative curative treatments are available. In the short-term their work will explore the hurdles that currently exist and identify areas of potential change and actions required to enable sustainable access to treatments, better highlighting the scientific value, competence and high expertise of the consortium in providing new ideas and solutions.

Ultimately, the aim is to explore the creation of an independent, sustainable, not-for-profit entity that can support marketing authorisation, delivery and access to therapies which are not commercially sustainable and therefore would be unavailable to patients.

Chief Executive at GOSH, Matthew Shaw, said: “The AGORA consortium is a great example of how clinical teams and researchers from organisations around the world can work together to improve and save the lives of children with rare or complex diseases.

“We are delighted to host their first meeting at GOSH and looking forward to being part of the next steps to improve access to gene therapies.”

To highlight the importance of AGORA's work the group have also written a correspondence article for Nature Medicine, which considers access to gene therapy for rare diseases when commercialization is not fit for purpose.

In it, they write: "The challenges facing our newly formed consortium are significant, but decades of research, huge financial investments and, most importantly, the lives of thousands of patients are at stake. AGORA has come together to find workable solutions to enable sustainable access to treatments."



Credit: Great Ormond Street Hospital

Media contact 

Poppy Danby 

E: p.danby [at] ucl.ac.uk