How the Rare Disease Moonshot can unlock science for patients

Sometimes the most exciting areas to work in are those facing complex challenges, where the scope for making a real impact is greatest. This is what attracts us to rare diseases, a field where 95% of the 7,000 identified conditions have no approved treatment or cure.

It pains us all to see that most people with rare diseases – many of them children – suffer while they wait for a scientific breakthrough. Indeed, many spend years pursuing a diagnosis, only to find that there are no treatment options for their condition.

However, there is hope. In the past two decades, more than 200 therapies for rare diseases have become available, transforming many lives. At the same time, the profile of rare diseases has come on a long way, thanks to dedicated patient advocacy, increased political awareness, the creation of European Reference Networks, and a strengthening commitment from public and private actors.

Advances in science and technologies, including new diagnostic tools, and new modalities like gene therapy, offer unprecedented opportunities. Nonetheless, there is frustration at the pace of progress; a strong sense that we need a game-changing collective push to break down silos, to unlock science and to catalyse innovation. That’s why we are excited about the Rare Disease Moonshot – a collaboration between players in translational research aiming to boost public partnerships where they can add most value.

Tackling ‘white spots’

Before we look at the RD Moonshot more closely, let’s be precise about the problem we aim to solve together. A report by Dolon, has explored unmet need in rare and paediatric-onset diseases. It focused on ‘white spots’ in the rare disease landscape: areas where there is no research activity and no solutions on the horizon.

Three key challenges emerged. The first is that studying rare diseases and paediatric conditions is difficult. Basic knowledge of these diseases is often very limited; patient cohorts are small and hard to reach; the design and conduct of clinical trials is complex. As a result, rather than lacking economic incentives or political will to translate science into solutions, there simply is not enough science to work with.  

The second is the need for the development of advanced regulatory science in Europe, taking account of the unique nature of these diseases. This can inform regulatory decision-making throughout the lifecycle of a medicine. Here, the situation is better than it was 20 year ago, but further refinement would be welcome. Europe needs a solid pro-innovation ecosystem supported by a world-class regulatory system. Otherwise, even where there is good science, new knowledge will not become the treatments that patients need.

The third element is that payers do not always recognise the full value brought by new medicines. Rare diseases can have a profound impact on patients and their families, costing them personal pain, discomfort and anguish, as well as lost time in education and work.

The point here is that the problem is multifactorial. There is a persistent misperception that the lack of translational research in the rare diseases field is due to the high level of risk and poor prospects of profitability. The simplicity of that idea may be attractive to some, but it is incomplete.

It is not merely about dialling up or down incentives for innovation. Without basic research, robust data, patient registries and clinical infrastructure, there can be no progress. Without science, there is nothing.

Public-private progress

The RD Moonshot brings together the patient voice, organisations with capacity in biobanks and data analytics, translational medicine expertise, clinical trials, and companies – large and small. The seven partners are: the Critical Path Institute (C-Path), the European Infrastructure for Translational Medicine (EATRIS), the European Clinical Research Infrastructure Network (ECRIN), the European Federation of Pharmaceutical Industries and Associations (EFPIA), the European Confederation of Pharmaceutical Entrepreneurs (EUCOPE), EuropaBio, and EURORDIS-Rare Diseases Europe.

To be clear, this is not a new funding instrument or a research project. The RD Moonshot will boost public-private collaborations in areas that address disease ‘white spots’ by identifying gaps where solutions are needed, defragmenting existing initiatives and facilitating engagement through European and national programmes, such as the Innovative Health Initiative (IHI), Horizon Europe, and the Rare Disease Partnership.

Together, we aim to:

  • ENHANCE the translational research ecosystem to fill the research pipelines with new new areas of investigation and novel therapies,  
  • OPTIMISE clinical trials and regulatory pathways for very small patient populations to de-risk and optimise development,
  • DEVELOP infrastructure to accelerate the journey to diagnosis and treatment.

The goal is to complement and scale up existing work. Indeed, we acknowledge that several of the RD Moonshot partner organisations are already actively engaged with initiatives that align closely with our shared vision.

For example, IMI projects – notably ARDAT, Screen4Care, conect4children, and EU PEARL – are helping to enhance translational research, optimise trials and develop infrastructure.

Several Moonshot partners are actively working with Together4RD which aims to bring ERNs, patients and industry together to future-proof the rare disease ecosystem in Europe. And, of course, our scope can be bigger than the EU. The Rare Disease Cures Accelerator-Data and Analytics Platform, an FDA-funded initiative where C-Path is playing a central role, is providing a centralised and standardised infrastructure to support and accelerate rare disease characterization, with the goal of accelerating therapy development across rare diseases.

These are all pieces of the Moonshot jigsaw and the IHI Call 3, launched in December 2022, will add another one by funding public-private consortia to resolve translational research challenges in advanced therapy medicinal products (ATMPs) which may address some of the white spots in the rare diseases space.

Taking action together

The RD Moonshot is a concrete example of how public and private players, with patients as key partners, can add the momentum needed to advance the care of people with rare diseases. Together we support the call by EURORDIS for an EU Action Plan on Rare Diseases. Indeed, we hope the Moonshot will go some way to preparing the ground for an Action Plan.

In the meantime, we are not waiting for someone else to act. We are doing everything we can to make progress happen and working to change the current paradigm for rare disease research. Together, with science, we can fill in the white spots.

Magda Chlebus

Magda Chlebus, Executive Director of Science Policy & Regulatory Affairs at EFPIA, is in charge of policy and...
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