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Together4RD: making ERN-industry collaboration a key pillar of the future in the rare disease research ecosystem

There are many challenges that currently hinder collaboration between the European Research Networks (ERNs) and industry. Sheela Upadhyaya unpicks the challenges and describes how Together for Rare Diseases (Together4RD) seeks high-level solutions to propelling the rare disease field into a new era of progress

By Sheela Upadhyaya, a life sciences consultant specialising in rare disease
Together for Rare Diseases

The challenges hindering collaboration in rare diseases

In my previous articles, I’ve discussed the importance of collaborative efforts in the context of rare diseases, and this piece is no exception. Over the past two years, I’ve had the privilege of leading a dynamic multi-stakeholder initiative with the goal of bolstering European Reference Networks (ERNs) in their efforts to partner with various stakeholders. This collaboration is driven by a shared mission to explore opportunities that can effectively address the unmet needs of individuals affected by rare diseases. Our initiative, known as “Together for Rare Diseases” (Together4RD), was established in 2021.

As clinical research networks, European Reference Networks (ERNs) hold an incredible amount of knowledge and data on rare diseases, which can support the research and development of new therapies and support greater understanding of these conditions. To reach their potential, especially in terms of addressing the significant unmet needs of patients, ERNs must be adequately supported (financially, technically and via sound policies and infrastructure). Yet, this support alone will not be enough for ERNs to fulfil their research potential: it must be accompanied by an ability to forge robust collaborations harnessing the expertise, resources, knowledge and data of all stakeholders involved in rare disease, including industry.

There is no overarching framework for ERNs to engage with industry or other researchers to exchange and collaborate using this knowledge. In 2019 the Board of Member States of ERNs published a statement outlining the principles of ERN and industry collaboration, but there are restrictions on funding and governance arrangements which make collaboration practically challenging.

Various reservations persist, including concerns about how data pertaining to diseases and patient populations will be collected, shared and leveraged to advance knowledge. Addressing perceived or actual conflicts when collaborating with the pharmaceutical industry, ensuring transparency in activities and devising effective governance structures that incorporate patient involvement are all pressing issues that have raised apprehension among ERNs and policymakers.

These challenges have led to limited opportunities for collaboration, ultimately hampering the research potential of ERNs. Consequently, there has been little progress in generating new knowledge that could potentially transform the situation for the 95% of rare diseases that lack treatment options. It is disheartening that this percentage has shown little improvement over the past few years.

Identifying high-level solutions to propel research forward

Together4RD is working to unpack some of these challenges and identify practical frameworks and structures to enable closer and more targeted partnership in the areas that can make a difference. Our work is supported by a multi-stakeholder steering group, including representatives from four ERNs, European research organisations, EURORDIS and industry. The project is currently supported financially by four companies and two trade associations: Novo Nordisk, Sanofi, Takeda, UCB, EFPIA and EUCOPE. These partners have demonstrated their visionary mindset and their willingness to embark on initiatives that have the potential to reshape the research landscape in the realm of rare diseases.

Throughout this year, we’ve actively engaged in the development of several proof-of-concept pilot projects. These initiatives serve as practical demonstrations of how collaborations between European Reference Networks (ERNs) and industry can be effectively implemented. They also serve as a valuable source of insights that, over time, will contribute to the establishment of a comprehensive framework. Additionally, we’ve drawn inspiration from the multitude of existing partnerships between clinical research networks and industry entities across Europe.

Among the notable case studies we’ve examined are the EBMT Registry, Sanofi Genzyme French Pompe Registry, TREAT-NMD, ITTC Consortium, ACCELERTE, Proof of Concept (POC) Club and EORTC. These examples have provided us with valuable best practices and have guided our considerations in shaping an appropriate model for advancing ERN-industry collaborations in a targeted manner. In September this year, Together4RD’s position statement was published in the Orphanet Journal on Rare Diseases, marking a renewed effort to engage with policymakers at EU-level to ensure that ERN-industry collaboration is supported and can be a key pillar of the future rare disease research ecosystem.

A summary of the Together4RD policy asks

• Transparent governance structures to enable and empower ERN and Industry collaboration
• The creation of a public-private research collaboration where preclinical knowledge can be exchanged
• Independent, well-resourced ERN registries
• EU Rare Disease Action plan collaboration

The publication of this paper has provided us with a platform to present our project in the European Parliament, thereby elevating awareness of the challenges we aim to address at a political level. Furthermore, we are excited to announce that we will be hosting a half-day track at the upcoming World Orphan Drugs Congress (WODC) in Barcelona, where you can delve deeper into our endeavours.

This foundational work is crucial in laying the groundwork for further ERN-industry collaborations to flourish. The current climate is exceptionally opportune for taking these much-needed strides forward. These recommendations outline high-level solutions that are imperative for propelling the rare disease field into a new era of progress, in stark contrast to the often sluggish or, in some cases, non-existent pace of advancement we see today.

Meeting the goals of Together4RD will sometimes require compromise. People perceive the real barriers to ERN and Industry engagement rather differently and also sometimes have different views on what the ideal set-up of the future should be: to some, the most meaningful barrier is the fact that ERNs are not legal entities.

Stakeholders need to be willing to bend from often quite rigidly held positions and beliefs to meet in the middle in order to move things forwards.

Forging new partnerships to create a critical mass

The global perspective is particularly important in the clinical research space, as companies operate at the global level—but equally, for most rare diseases, the critical mass required in terms of patient data can only come from a global collaboration.

Looking ahead, we have robust plans to sustain our engagement with policymakers and forge new partnerships within the industry. If you would like to learn more or get involved, please don’t hesitate to reach out to us, or directly to me. Your interest and participation are greatly valued. For more information or to get involved in our work, see our website:

About Sheela

Sheela Upadhyaya is a consultant to the life sciences industry. She led the NICE Highly Specialised Technology Programme, the programme to evaluate medicines and technologies for rare and ultra-rare conditions for commissioning in the NHS. She was NICE’s Rare Disease and COVID-19 strategic adviser. She is chair for Together for Rare Diseases (Together4RD), an initiative to support collaboration between European Reference Networks (ERNs) and industry.

Sheela is an adviser to the European Haemophilia Consortium Think Tank, and past chair for the ISPOR Rare Disease special interest group.


[1] Statement of the ERN Board of Member States on Integration of the European Reference Networks to the healthcare systems of Member States:

[2]Together4RD position statement on collaboration between European reference networks and industry:

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