Please note: this interview has been translated from Dutch to English

The Nijmegen Therapy Accelerator for Rare Diseases supports researchers in developing new treatments for rare conditions. Professor Dirk Lefeber from Radboudumc Nijmegen discusses this initiative and the official launch of the FAST-Hub RARE-NL on June 3, 2024: “In recent years, significant energy has been invested in organising care and diagnostics. Now it is time to accelerate therapy development.”

“About 1 million people in the Netherlands suffer from a rare disease, which can severely impact their quality of life and even their life expectancy,” says Lefeber. “When considering rare diseases as a whole, it is a significant societal issue. Therefore, we also want to view research into the treatment of rare diseases more as a unified effort. This means applying the lessons learned from developing treatments for one disease to other rare conditions. Hence, we aim to collaborate both within Nijmegen and nationally.”

The Value of Collaboration

In recent years, significant efforts, initiated by the Dutch Federation of University Medical Centres (NFU), have focused on organising care for patients with rare diseases. University medical centres and some general hospitals now have expert centres for diagnosing and treating various rare diseases, often integrated into European networks of clinicians and researchers. Lefeber explains: “My own research focuses on rare metabolic disorders. We have made considerable progress in diagnostics, including through genetic research. And have discovered and described several new conditions. Now it’s time to strengthen and accelerate the development of effective treatments. This includes drug repurposing, DNA or RNA-based therapies, and cell therapies. Collaboration is invaluable in these areas because there are always similarities. By leveraging each other’s expertise, we can move from creative ideas to clinical applications more swiftly and in a socially acceptable manner.”

Join Forces

Lefeber and his Nijmegen colleagues have already seen the benefits of collaboration: “We observed that Radboudumc achieved success in therapy development in several areas, such as dendritic cell vaccination for rare tumours, RNA therapy in ophthalmology, and n=1 trials in neurology. These are examples of isolated successes. We then asked: wouldn’t it be better to bring these efforts together to accelerate and strengthen the entire process? We received funding from the government, which has now become the Therapy Accelerator for Rare Diseases.”

The programme is currently focusing on two main themes: therapy pathways and learning communities. Therapy pathways, as Lefeber describes, provide “advisory functions” for researchers looking to develop ideas into concrete treatments. Using available experiences and case studies, a step-by-step approach for therapy development is being developed. This theme also involves systematically gathering and making expertise available across the entire therapy development process with the end goal in mind. Learning communities are collaborations around relevant topics such as drug repurposing. Lefeber notes: “These collaborations focus on knowledge sharing, setting up educational initiatives, and bringing together people both within and outside our university medical centre, such as through our regional investment fund.” Currently, efforts are being made to identify which topics would benefit from such a learning community.

Collaboration on Methodological Questions

According to Lefeber, collaboration and pooling resources are also crucial for methodological questions: “A significant question in preclinical research is the predictive value of model systems. When researching potential treatments, model systems are always needed, whether it’s a human organ-on-a-chip model or an animal model. This also applies to determining the most suitable delivery method for a particular type of gene therapy or oligonucleotide treatment. By examining existing successful treatments, we can select a more effective delivery method early in preclinical development and avoid using a vector already under commercial patent, which could increase costs. For these examples, it makes sense to learn not just within a university medical centre but also nationally. The value of a particular approach is better assessed when considering all relevant research happening in the Netherlands. This involves dozens of research groups per university medical centre, each developing models and testing interventions or seeking the optimal strategy for gene therapy or oligonucleotides.”

RARE-NL

The regional collaboration in Nijmegen aligns with a national trend towards greater cooperation in therapy development for rare diseases. The launch event for the Therapy Accelerator for Rare Diseases on June 3 at De Vereeniging in Nijmegen will also mark the official start of the new FAST-Hub RARE-NL. The initiators (Therapy Accelerator for Rare Diseases, Medicijn voor de Maatschappij, and NFKC) will present the current status and engage in an interactive session with 200 colleagues to brainstorm about the future and necessary collaboration. Regarding his vision for the coming years, Lefeber says: “I hope RARE-NL becomes the platform where we provide concrete direction for research into therapy development for rare diseases through clear protocols, and do so in a socially acceptable manner. For instance, we could document what we know about RNA or gene therapy development. Medicijn voor de Maatschappij is already working on a pilot project to improve access to orphan drugs via the Orphan Drug Access Protocol. We also hope to consolidate existing research projects and secure larger subsidies for important topics. Ultimately, our joint initiative aims to ensure more effective and safe treatments are available for patients with rare conditions.”

This article concludes a series of interviews with the initiators of RARE-NL. Previous interviews featured Professor Teun van Gelder (LUMC, National Pharmaceutical Knowledge Centre), Professor Carla Hollak (Amsterdam UMC, Medicijn voor de Maatschappij), and Dr. Saco de Visser (FAST).