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Treating rare diseases: can new business models solve equity of access issues?

From setting standards for genetic newborn screening to helping pharma create a shared platform to treat thousands of rare diseases, IMI is ready to help drive the science forward

mask by Anastasia Gepp via Pixabay
Image by Anastasia Gepp via Pixabay


A rare disease, by definition, affects relatively few people. But with thousands of different types of rare disease, taken collectively, they affect millions of patients in the EU alone. Defective genes cause the majority of these diseases, and gene therapy in particular has offered a lot of hope to patients and their families in their search for cures.

The concept of gene therapy is deceptively simple; find the ‘bad’ gene, and replace it with the ‘good’ gene. However, early attempts to do this were unsuccessful. To take one high-profile example, clinical trials were carried out in the nineties involving so-called ‘bubble babies’, who suffer from a rare disease called ADA-deficient SCID, which is caused by a mutation in a single gene. The disease effectively leaves these children with no functioning immune system, requiring them to live in isolated, sterile bubbles. However, to the horror of the researchers in these early gene therapy attempts, the ‘good’ gene would sometimes unexpectedly insert itself into the chromosome of the child, leading to leukaemia.

The kind of problem IMI is designed to solve

In the past few decades, drug developers have tried to work out ways to overcome this DNA integration problem, which has given rise to a whole series of vector technologies. Progress has been slow, however, with few companies willing to invest in developing treatments that are not volume-based. They have also struggled to take intellectual property positions on specific vector types and delivery systems. As this is the kind of problem IMI is specifically designed to solve, we have been able to entice companies to come together to make an attempt to break the deadlock.

Defining a pre-competitive space was very challenging for the pharma companies. Not for the first time, there was a reluctance to share openly and work collectively, with individual companies determined to solve the problem on their own. However, it soon became clear that it would be much more cost-effective to work together. Because the number of people with these diseases will remain relatively small, what’s needed is a way to create incentives without having access to volume-based markets. Could they create a unified, shared platform that everybody could use to treat hundreds or even thousands of diseases in the same way, thereby drastically cutting the costs?

The project ARDAT, which was launched in 2020 after many years of discussion, looks at the gene delivery system problem and issues of immunogenicity, in order to establish some standards for vector technologies. The idea is to create a series of unified strategies and standards that each company could then use in a horizontal way, so that they can approach the regulators as a whole, and get buy-in on manufacturing processes, toxicology, preclinical testing, characterisation and so on. This would stop wasteful duplication of efforts, with each player approaching the regulators with completely different standards, slowing down progress. With a more streamlined regulatory and clinical trials design pathway, costs will come down, and the whole process will be accelerated so that patients get treatments faster.


Towards a horizontal way of working

This is what happened with the Ebola vaccine. A new type of platform was validated during one of our Ebola projects, and now, when J&J came to develop their COVID-19 vaccine, they were able to use the same platform about which a whole series of questions had already been answered. We hope for a similar outcome with the Call we launched in 2020 related to genetic newborn screening. Diagnosing rare disease patients as early in life as possible would allow them to get the best care. However, once again, deciding on standards for such a screening platform would require all stakeholders around the table, considering not only the scientific challenges, but also the myriad of ethical, legal, and public policy questions that surround the topic.

IMI has also funded a research project related to a specific rare disease called Fibrodysplasia ossificans progressiva (FOP), one of the rarest diseases in the world. FOP causes a defect in a gene related to bone metabolism. What I find very interesting is that this gene is implicated in many other more common diseases, including certain cardiac malformations, cancers of the nervous system and Parkinson’s disease. What I would like to know is: what can we learn about the link between specific genes and other more common diseases? I suspect that our understanding of this link would be extremely beneficial, and it’s exactly the kind of pre-completive research question that IMI specialises in.

Science has tended to neglect diseases that affect small numbers of people, but that has been changing. In the EU, the policy appetite for spending on rare diseases is huge. The European Joint Programme on Rare Diseases, which recently invited me to join their board, is very prominent in our world, and IMI intends to collaborate with them in a much more proactive direct way in the future. Europe has really been a leader in this area, and IMI stands ready to help drive the science forward.


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