Tackling uncertainties for rare diseases (L6)

Go fast or go far?

I am a medical doctor by trade. As all medical doctors will know, the first commandment of being a medical doctor is ‘first, do no harm’. But a very close second is the mantra that evidence is the holy grail, and the holy grail of evidence is the RCT. But what if an RCT is simply not possible, for example if the disease you are studying simply does not have enough patients to conduct one? That is where Real World Evidence (RWE) comes in. Real World Evidence refers to information collected outside of a clinical trial, for example from electronic medical records, and it can help address evidence gaps in the field of rare diseases.

There are about 7000 rare diseases, defined as diseases that affect fewer than 1 in 2000 people. People with rare diseases are often overlooked when it comes to SDG3. To quote Helen Clark, former prime minister of New Zealand: “No country can claim to have achieved universal healthcare if it has not adequately and equitably met the needs of those with rare diseases.” The small number of patients in these diseases, sometimes as few as 50 or 60 worldwide, makes it very hard to generate evidence the traditional way. This leads to heart-breaking examples where drugs or technologies with possible major impact are developed, but access cannot be guaranteed due to the uncertainties surrounding them. We need to address these evidence gaps.

Enter TRUST4RD, a multi-stakeholder initiative aimed at facilitating the use of RWE for addressing those uncertainties. The rationale behind this is simple: approaches that are agreed upon through a multi-stakeholder dialogue have the potential to increase trust and uptake of RWE in health care decision making. So far the initiative has compiled an overview of the uncertainties surrounding new technologies for rare diseases, and an overview of data sources that can address these uncertainties. With this, they aim to guide decision makers and to support understanding. TRUST4RD was presented for the very first time at this year’s EHFG and will have the form of a live document, open to contributions and opinions.

The discussion that followed, about how the gap between possibilities and reality can be bridged and what the role of all stakeholders is in facilitating the use of RWE, can be summarized in three words: communication, communication, and communication. We need to have an open dialogue, trust each other and learn from the good examples that already exist in for example Finland, France and Scotland. Heidrun Irschik-Hadjieff hit the spot when she ended her closing remarks with an African proverb: “If you want to go fast, go alone. If you want to go far, go together.”


This Blog was written by the Young Gasteiner Lilian van der Ven



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