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Building a brighter future for rare disease patients

By Malcolm Barratt-Johnson

The definition of a rare disease is one that affects fewer than one in two thousand people.

Historically it was commercially challenging for sponsors to develop medicines to treat these so-called 'orphan' conditions. Patients were often unrepresented and suffered silently without research interest or the hope of viable treatments. However, the Orphan Drug Act, passed in 1983, ushered in a new era for rare disease development.

Incentives to research even super-rare conditions are now available to developers in Europe and the US, including tax breaks, grants and, most significantly, a period of important market exclusivity. The impact of the act on research productivity for rare indications was stark. Before 1983 only thirty-eight orphan drugs gained regulatory approval while by 2014 that figure had reached 468 designations covering 373 drugs.

In Europe alone, a recent study by EUCOPE found that the number of clinical trials focused on rare diseases has grown by 88% in a decade. Since 80 per cent of rare diseases have a genetic cause, new advances in genomics have also boosted the hopes of patients living with rare diseases by enabling more targeted approaches to medicine.

With cutting-edge science taking centre stage in orphan drug development, academic institutions and virtual biopharma play a central role in innovation.

However, smaller organisations looking to take a breakthrough therapy to market are often challenged by a lack of internal resources to help them define and communicate the value of the medicine to the market. While a wealth of research knowledge exists within emerging pharma companies and university spin-outs, there tends to be less in-house experience of translating the science into compelling stakeholder value.

PMC is proud to work with several orphan diseases organisations with innovative technology platforms and support their medical affairs efforts. One US-headquartered client uses a unique structure-guided drug design process to discover and develop optimised novel small-molecule drugs; another uses anti-sense technology to create products to treat rare disorders.

As medical affairs experts with decades of experience, we are adept at bridging the gap between scientific and commercial stakeholders and forging strong external partnerships with patients, opinion leaders, regulators, medics and payers.

We help these rare disease developers to create and present a high-quality scientific narrative to educate stakeholders about the new medicine. Moreover, our agile, virtual solution allows these clients to focus on what they do best – great science – while we take care of the medical affairs.

Thankfully, there is even more hope on the horizon for patients suffering from rare conditions. The power of artificial intelligence to integrate and analyse data from different sources may help to overcome challenges of scarce, dispersed data and unlock further progress in rare disease development. The European Expert Group on Orphan

Drug Incentives recently launched to stimulate innovation and propose new approaches for orphan drug research. The calibre of the shortlist in the Excellence in Rare Diseases, and Orphan Drugs category at the PMEA awards also pays testimony to the industry's dedication to underserved patients.

As sponsors of the category, we are delighted to play a part in recognising the outstanding work of Abbvie, Boehringer Ingelheim, Jazz, Merck, Sanofi Genzyme and the Cambridge Rare Disease Network.

By continuing to work together as scientists, medics and communicators, we can help build real scientific value and innovation in rare diseases and create a brighter future for patients.

Malcolm Barratt-Johnson is Managing Director of PharmaMedic Consultancy Ltd

20th November 2020


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