Prof. dr. Pim Pijnappel and prof. dr. Hugo van der Kuy are the RARE-NL liaisons at Erasmus MC.Pijnappel is Professor of Cell and Gene Therapy, affiliated with the Departments of Clinical Genetics and Pediatrics. Van der Kuy is a hospital pharmacist, clinical pharmacologist, head of the hospital pharmacy, and Professor of Clinical Pharmacy. With their combined expertise in therapy development and pharmaceutical care, they jointly fulfil the role of liaison, ensuring that projects and knowledge from Rotterdam are well connected to the national RARE-NL network.

Collaboration and case development

Both emphasize the importance of building a solid infrastructure within their own institution and mapping out ongoing projects. Van der Kuy notes:“I strongly support the idea of pooling our knowledge, and perhaps even moving toward joint registration. In any case, we must avoid each department or UMC reinventing the wheel.” Pijnappel highlights the importance of collaboration in preclinical work and the transition to clinical trials. He suggests that people working in these phases can learn from each other as well as from external experts. They could then move forward together to tackle production and regulatory aspects.

Relevant projects

Hospital pharmacist Van der Kuy discusses a project on repurposing phenformin. In collaboration with Amsterdam UMC, research is being conducted to explore the potential use of this “naughty sibling of metformin” for pancreatic tumours. Van der Kuy values this collaboration and stresses the importance of inter-UMC cooperation: “The Netherlands is too small to compete. The same really goes for Europe, and even the world. We must join forces—and that’s exactly what is happening here!” Molecular biologist Pijnappel presents a gene therapy project and the establishment of a company, LentiCure, which is wholly owned by Erasmus MC. “The aim is to create a new pathway for therapy development based on a non-commercial model that enables cost savings and better treatments. Through the company, we are developing a not-for-profit business model that uses alternative funding sources, such as grants and philanthropic foundations. This model can help to bypass the high prices of current therapies and improve accessibility.

We work closely with clinical centres that hold extensive expertise and to which all Dutch patients with the rare diseases we focus on are referred. This allows us to design and conduct clinical studies ourselves. With LentiCure, we also now have the knowledge and capacity to take steps toward pharmaceutical manufacturing and regulatory submissions.”

European cooperation and advocacy

The liaisons stress the importance of European cooperation and lobbying for funding opportunities and regulatory harmonisation. Pijnappel remarks: “That really is a bottleneck—each country confronts you with all sorts of questions, sometimes completely nonsensical ones!”

A philosophical reflection

Finally, Van der Kuy shares a philosophical reflection on the importance of dreaming big and fostering collaboration between university medical centres as a counterbalance to individualism and isolationism: “If your dreams don’t scare you, they’re not big enough!”