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Celebrating collaboration in rare diseases

For Rare Disease Day 2020, Account Manager Billy Johnson discusses how collaboration among patient groups and collective action are driving change in rare disease.

Despite the name, rare diseases represents 300 million people worldwide living with 6,000 known conditions. Recognition continues to grow, driven by coordinated action by patient advocacy groups (PAGs), patients and industry. Continued investment into drug development – from incentivisation and technological advances – has boosted the growth of the rare disease drug market to twice that of other therapy areas, and it is likely to represent a fifth of the pharmaceutical market by 2024.1

Rare Disease Day is a prime example of these groups collaborating towards a shared goal. The 13th annual event takes place on 29th February 2020. Initiated by the European Organisation for Rare Diseases (EURORDIS) in 18 participating countries, it now includes 60+ national alliances, with thousands of events spanning every continent. Vitally, it unites the voices of all people living with rare conditions under the banner of “we are the 300 million”. Through collaboration, this voice becomes even louder.

Principally a channel for PAG communications, political advocacy and awareness activity, Rare Disease Day is well known – particularly by industry, political and public bodies. This enables it to act as a platform so PAGs can build annual momentum, by individual or collective activity, such as Genetic Alliance or Rare Disease UK.

There are numerous complexities navigating the rare disease landscape, including limited patient numbers and knowledge of conditions. As the life sciences sector shifts towards greater patient-centricity, comes a recognition of PAGs’ important, varied role in shaping treatment and healthcare decisions. Combine this with collective action such as Rare Disease Day, and rare diseases are approaching the forefront of industry and policy-making. By facilitating access to patients and data collection, PAGs can influence policy, the regulatory process and rare disease clinical development.

Project HERCULES is an example of a successful PAG-industry collaboration. Initiated in Duchenne Muscular Dystrophy (DMD) by Duchenne UK, the project has nine industry partners, and provides an economic model to improve access to innovative DMD treatments.2 In the spirit of collaboration, key learnings, or the framework itself, will be applied to other rare disease areas to drive change.

Those living with rare diseases have experienced many improvements, including increased diagnosis access, treatment and care, but there is still much to be done. Further collective action and PAG involvement can help further innovation, fresh-thinking, and bring about greater equity across this wide-ranging disease area.

Overall, the rare disease sector provides important lessons for the pharmaceutical industry, and beyond. Through effective collaboration, communications and advocacy can be greater than the sum of its parts, and benefit all involved.

  1. Evaluate. Orphan Drug Report 2019. https://www.evaluate.com/thought-leadership/pharma/evaluatepharma-orphan-drug-report-2019 
  2. Duchenne UK. HERCULES project. https://hercules.duchenneuk.org/