On the 3rd of June, RARE-NL was introduced as the national FAST hub for rare disorders and drug repurposing. The launch event took place at the Vereeniging in Nijmegen, where the Therapy Accelerator for Rare Diseases from Radboudumc was also officially inaugurated. This Accelerator is one of the founders of RARE-NL, alongside Medicines for Society (Medicijn voor de Maatschappij) (Amsterdam UMC), Academic Pharma (LUMC), and FAST. The first speaker was a patient with a hereditary neurological condition for which no treatment is currently available. She shared how she continuously faced limitations, observed the same symptoms in her father and brother, and described the impact of the disease on her quality of life. Her story highlighted the importance of ongoing efforts to develop adequate treatments for rare disorders.

Therapy Accelerator for Rare Diseases

The newly established Therapy Accelerator for Rare Diseases got ample time to present itself. Various topics were covered. Dr. Gerty Schreibelt presented the use of cell therapy and gene therapy in treating rare conditions, particularly hereditary cancer syndromes. Her research group at Radboudumc is pioneering the use of dendritic cells for immunotherapy in hereditary (colorectal) cancer. These cells play a crucial role in the immune response by presenting immunological targets (antigens) to immune cells.

Dr. Joanna in’t Hout (biostatistics) addressed several methodological challenges in rare diseases. How do you determine whether a treatment works or not? Which outcomes are useful in practice, what is relevant for the patient, and what is acceptable for the insurer? These questions are always relevant when evaluating new treatments, but are even more challenging with a small group of patients.

Clinical pharmacologist Rob ter Heine explained how pharmacological models can contribute to drug research. These models help map out the effectiveness and safety of a drug even with relatively small patient numbers.

Academic Pharma

Professor Teun van Gelder, a clinical pharmacologist and nephrologist from Leiden, discussed the potential of academic institutions to develop new treatments. Leiden’s various research groups, including those from the university and LUMC, collaborate in this field and work with other knowledge institutions, for example, in developing personalised RNA treatments for individual patients or very small patient groups. Van Gelder also highlighted the collaboration between biomedical researchers and technical universities in stem cells and ‘organ-on-a-chip’ models at the Institute for Human Organ and Disease Model Technologies (hDMT). A similar collaboration between university medical centres and other knowledge institutions forms the basic idea  behind RARE-NL. The new FAST hub aims to ensure that as much expertise as possible is available to any researcher or clinician who is working on the development of a treatment for a rare condition or investigates a new useof an existing drug, in an innovative and socially responsible manner.

Medicijn voor de Maatschappij

Professor Carla Hollak, an internist at Amsterdam UMC and pioneer in the treatment of rare metabolic disorders, presented Medicines for Society (Medicijn voor de Maatschappij), which she founded five years ago tother with hospital pharmacist Marleen Kemper. The platform’s goal is to ensure that patients with rare conditions have access to effective treatments in socially responsible manner. This often starts with solving a specific problem, such as the route via a (temporary) pharmacy preparation or setting up an international disease registry for patients with a rare condition. Medicines for Society also coordinates the Orphan Drug Access Protocol, which is currently making sutimlimab and lumasiran available to patients. Ultimately, the aim is to explore and create solutions that work in the long term. Therefore, Medicines for Society is pioneering public-private collaboration models with socially responsible conditions, such as alternative pricing models. Research into regulations and the system of market approval, production, and reimbursement can also contribute to the sustainable availability of treatments.

The pragmatic approach of Medicines for Society often reveals bottlenecks that are also relevant for other treatments. Identifying such bottlenecks is a key objective, which is now widely supported within RARE-NL and FAST. The initiators aim to contribute to change by proposing concrete solutions.. A national platform adds value because not every group of researchers or clinicians developing a therapy for a rare indication has the opportunity to find relevant knowledge or address a bottleneck on a national level.

NFU and FAST

In Dr Saco de Visser’s presentation about FAST, the approach of moving ‘from case to system’ played a significant role. He  made a plea for socially responsible public-private partnerships to better align innovation with affordability. In the coming years, RARE-NL will further develop into a national infrastructure that brings together and strengthens local initiatives.

Professor Dr Guillén Fernández Reumann, Scientific Director of Radboudumc, expressed his appreciation on behalf of the Dutch Federation of University Medical Centres (NFU) for the establishment of RARE-NL. He recalled the joint efforts of the university medical centres (UMCs) in organising optimal care for patients with rare diseases. These efforts closely align with the European Reference Networks—an international infrastructure that is also valuable for RARE-NL.

The Future

Towards the end of the event, participants discussed the future of therapy development for rare diseases and drug repurposing in break-out sessions. One conclusion was that RARE-NL should also focus on production, from small molecules to Advanced Therapy Medicinal Products (ATMPs). Another theme that frequently recurred in these sessions and throughout the meeting was the involvement of patients and patient organisations. The knowledge and experience of patients and their parents is invaluable in the development and evaluation of new treatments for rare diseases. Researchers and patient organisations across various fields are seeking ways to professionally incorporate patient participation, in a sustainable way.

For RARE-NL, which includes representation from patients, government agencies, industry, and knowledge institutions, this day marks a promising start for the further development of the FAST hub. De Visser noted, ‘Establishing a new entity is not the main goal. This collaboration is the logical continuation of everything we’ve done so far, and  will enable us to contribute more quickly and effectively to a better system for therapy development for rare diseases and drug repurposing, in the interest of patients in the Netherlands and beyond.’