Spinout News / UCLB News
Rare Disease Day - reflecting on the challenges and breakthroughs shaping the treatment of rare diseases in 2025
28 February 2025
This Rare Disease Day we’re reflecting on the challenges and breakthroughs shaping the treatment of rare diseases in 2025. UCLB Business Manager Biopharm Alberto Gatta outlines some of UCLB’s pioneering work.
What do you find inspiring about your work helping to get therapies for rare diseases from the research lab to patients?
Remarkably, there are about 7,000 known rare diseases and collectively they affect more than 30 million people in the US and more than 36 million people in the EU, or about 6% of the global population.
75% of rare diseases affect children, so patients and their families face huge physical, psychological, and social challenges. UCL is at the forefront of translational research for rare diseases, working alongside industry, government, charitable organisations, and patient advocate groups to collectively advance the therapies from the lab to the clinic.
Despite the high unmet medical need, commercialisation in the rare disease space has become more difficult in the past 4-5 years because attracting significant, long term capital investment to support what is often an expensive and lengthy commercialisation journey. UCLB strives to adapt to the changing environment and guide UCL academics towards the best possible strategies to effectively commercialise their technologies.
Which UCL departments, hospitals and academic teams do you most frequently work with?
One of the advantages of working at UCL is the combination of high-impact research with world-renowned clinicians based at our partner NHS Trusts (Great Ormond Street Hospital for Children NHS Foundation Trust, Royal Free Hospital NHS Foundation Trust, and University College London Hospitals NHS Foundation Trust) bringing patients’ needs and clinical expertise into the laboratory to develop technologies to address a specific disease and patient’s focus.
What technologies and research into rare disease therapies have been most exciting over the last few years?
UCLB spinouts and licences are making significant progress in the field of rare diseases, particularly through gene therapies. These involve packaging missing or defective genes into viral vectors, which are then delivered to tissues in the body to restore specific functions. This approach has shown great promise in treating various inherited conditions.
Biomarin and MeiraGTx, have made remarkable strides. Biomarin is working on gene therapy for inherited Haemophilia A in adults, while MeiraGTx focuses on inherited blindness in children.
What are the biggest challenges in getting research from the lab to the clinic, particularly in rare diseases?
The development of therapies for rare diseases presents challenges due to the small numbers of patients affected with each disease, the complex and costly manufacturing of cell and gene therapy products, the requirement for each individual product to undergo lengthy and expensive regulatory assessment, and complex reimbursement strategies.
From an economic perspective, the biggest challenge for rare diseases remains the balance between the huge amount of investment required to support pre-clinical and clinical research versus the comparatively small patient population for each rare disease.
Reimbursement is also a challenge because there is a lack of harmonisation in Europe and the threshold for reimbursement is high.
Companies that approach commercialisation are not getting their drugs reimbursed at the price they would have hoped, and we have seen a substantial lack of access to patients with companies not commercialising their drugs in every country or pulling the drugs out of the market all together.
What are the biggest rare disease challenges that you hope will be solved by commercialising research?
The European Medicines Agency has announced big changes to directing research to areas with impact so this could have an effect on new medicine development for rare diseases. Considering the current difficult market environment, companies and academia are being creative when it comes to funding commercialisation of therapeutics for rare diseases.
For example, several research groups based at UCL are working on the rare and ultra-rare (less than one in 50,000) diseases in areas such as metabolism and immunity. UCL researchers are at the forefront of some of these initiatives co-leading a consortium tackling the growing economic hurdles that prevent life-saving gene therapies from reaching children who need them.
One such consortium is AGORA (Access to Gene Therapies for Rare Disease), launched in September 2022 at Great Ormond Street Hospital. It brings together academic groups, regulators, funders, patient advocacy groups, and drug developers from the UK and Europe. AGORA has been exploring the hurdles that currently exist and identified areas with actionable initiatives to enable sustainable access to treatments. Similar initiatives have been launched by other institutions and include companies set up to work as non-for profit.
And meanwhile, over the coming few years, more and more patients will be getting access to therapies for rare diseases in the areas I mentioned earlier such as Haemophilia and inherited eye diseases, thanks to the pioneering work of UCL researchers. I hope that future Rare Disease Days will see more people benefiting from these and other research breakthroughs.
Bespoke Gene Therapy Consortium (BGTC) in the US Bespoke Gene Therapy Consortium (BGTC) | National Center for Advancing Translational Sciences
Ampleia, a French-based venture builder working in partnership with Généthon https://www.ampleia.eu/
The Oxford-Harrington Rare Disease Centre https://www.oxfordharrington.org/
The Orphan Therapeutics Accelerator https://www.orphantxl.com/
On the commercial front there are some major challenges mainly focus on the regulatory pathway and reimbursement.
While initiatives like the Orphan Regulation was designed to address patients’ unmet medical needs, time has shown that the regulation has gradually become less effective in directing research to areas with no available treatments and early discovery. EMA, the European Medicines Agency has announced big changes to this framework and companies are acting cautious about embarking on new medicines development for rare diseases.
Europe should be doing a better work on attracting clinical trials as they are lagging behind US and Asia now as well and could benefit from a more unified approach.
On reimbursement, it’s not as easy as it looks; there is a big lack of harmonisation in Europe and the threshold for reimbursement is high! Companies that approach commercialisation are not getting their drugs reimbursed at the price they would have hoped, and we’ve seen a lack of access to patients as a consequence, with companies not commercialising their drugs in every country or pulling the drugs out of the market all together.