How rare diseases came to be defined: Rare Disease Day 2024

Today is Rare Disease Day, an international awareness day that takes place annually on 28th February (or 29th on leap years like this one) – the rarest day of the year.

In earlier blogs we looked at the relationship of rare diseases to common diseases, and how thinking about one can benefit thinking about the other. This year, we’re taking a step back to highlight a fascinating paper, published in 2009 by Caroline Huyard, that examines the origin of the concept of rare diseases.

Interestingly, the concept of rare disease is a different one for patients, physicians, regulators, and industry – with patients and regulators playing a key initial role in the US, and the industry in the EU.

The Regulatory Perspective

The regulatory concept for rare diseases has evolved over time, but the origins were based on diseases with no approved drugs. These came into existence in the 1970s when the FDA required a review and approval process for then-existing drugs – and for some of them this did not happen. The existing, unapproved, drugs could continue to be used, but the treated indications came to be designated as “orphan diseases”. One of two conditions had to be met for a disease to be considered “orphan”:

  • a new or renewed drug approval being unlikely to be profitable in the US, or
  • the disease affecting less than 200,000 patients in the US.

The first of these, lack of profitability, turned out to never be the decisive criterion, and that’s why rare diseases became synonymous with “orphan diseases”. This is why developmental drugs for these are still designated as “orphan drugs”.

Emphasising Innovation in Europe

In the US, many of these definitions were codified in the Orphan Drug Act in 1984. In Europe, the discussion was lagging by a few years but was then adopted. It was initially pushed by the pharmaceutical industry noticing the developments and incentives provided in the US. This is why, in the EU, the concept is more connected to pharmaceutical innovation.

Patients’ and Physicians’ Concepts for Rare Diseases

What about patients and physicians? Patients living with infrequent conditions experienced a wide variety of symptoms but were sharing the experience of a condition that was not well known. These were frequently without established therapeutic approaches, and mostly without specific drugs that could be prescribed based on demonstrated effectiveness. Another shared experience is that many rare diseases are associated with significant reductions in quality of life and with poor life expectancy. For physicians, it’s been different again – because for specialists who were focusing on infrequent diseases, these were in their practice, not “rare” at all!

As we noted before, each rare disease is only experienced by a limited number of patients, but approximately 300 million humans  are living with a rare condition.

Head back to our earlier blogs to learn about connections between rare and common diseases that can be helpful when thinking about drug development or reach out to us. We are happy to chat!

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