Around one million people in the Netherlands suffer from a rare disease. Although each condition is individually uncommon, the collective impact is significant. For many of these diseases, no specific treatments exist. Within RARE-NL — a hub of FAST — researchers are working with partners, including the Leiden-based company Orfenix, to develop therapies for rare diseases. Pioneers in this field, Prof. Dr. Carla Hollak and Dr. Saco de Visser, Scientific Director of FAST, discuss the progress so far and their vision for the future.

“With RARE-NL, we’re building a national initiative around medicines for rare diseases and drug repurposing,” says De Visser. “This effort is based in part on the expertise developed through the Medicines for Society platform led by Carla Hollak and her colleagues at Amsterdam UMC.” Prof. Hollak, Professor of Medicines and Society at Amsterdam UMC, adds: “In recent years, we’ve improved access to medicines for several rare diseases. We’ve also initiated partnerships that gave us valuable experience with market access. But colleagues at other university medical centers (UMCs) bring different, equally crucial expertise that’s needed to develop effective therapies for a broader range of rare conditions.”

Connecting the dots:
For patients, having a rare disease often means facing a complex and prolonged journey — even getting an accurate diagnosis can take years. UMCs therefore place special focus on rare conditions. Their close integration of clinical care and research offers deep insight into disease mechanisms. Each UMC has developed its own areas of specialization, and for some rare diseases, there is now a substantial understanding of the underlying biology — an essential foundation for treatment development. Prof. Hollak explains: “Sometimes, we’re fortunate to find that an existing drug works effectively. That’s why we currently have several ongoing drug repurposing projects.”

Dr. De Visser adds: “Drug repurposing should really be encouraged more. These are often well-known drugs, many of which are already available as generics. Unfortunately, the current reimbursement model for generics does not incentivize manufacturers to invest in new indications. That’s still a major challenge.” Rare diseases can also serve as valuable test cases for innovative treatment concepts such as antisense RNA, gene therapy, or stem cell therapy. Prof. Hollak notes: “There are initiatives like the Dutch Center for RNA Therapeutics, where there is a wealth of technical expertise. Our role could be in helping to identify suitable target diseases and improving access to these approaches.”

Building connections:
Prof. Hollak was a member of the Royal Netherlands Academy of Arts and Sciences (KNAW) committee that published the 2021 report Efficiency gains through innovation in medicines development: how can science contribute? “Many of the issues discussed in that report are especially relevant for people with rare diseases,” she explains. “It covers the entire chain — from scientific models to understand and tackle disease mechanisms, to optimal public-private collaboration that includes socially responsible pricing, and finally to access and reimbursement.” “The committee brought together experts from all parts of that chain. We showed that the current approach is fragmented and that much stronger connections are needed. In translating this into practice — a role FAST and RARE-NL are well-positioned to play, particularly from the rare disease perspective — I believe we need a pragmatic and concrete approach.” Dr. De Visser concludes: “The motto ‘from case to system’ helps keep things grounded and clearly shows where the system is failing. Without that mindset, you risk drifting into wishful thinking. As we build a national consortium, we need to stick to this grounded, practical approach.”

Note: An earlier version of this interview was published on the FAST website in the lead-up to the RARE-NL launch.