Home » Rare diseases » Tackling unmet need in care for patients with rare disease

Sean Richardson

General Manager UK & Ireland, Alexion, AstraZeneca Rare Disease

Sean Richardson, General Manager UK & Ireland for Alexion, AstraZeneca Rare Disease, discusses development of innovative drugs and his optimism for an exciting future to improve the lives of patients with rare diseases.

What are the challenges facing patients with rare diseases?

Rare diseases are often severe, chronic, progressive and associated with high mortality. The impact rare diseases have on patients, their families and society is profound, and there remain high unmet needs for people living with a rare disease. This came through clearly in a 2020 survey of 1,000 patients and families conducted by Genetic Alliance UK, supported by Alexion. The survey showed that there are still major unmet needs in the care of patients living with a rare disease across the entire patient pathway.

What are the challenges for clinicians?

With over 7,000 rare diseases and the low prevalence of each disease, the ability for clinicians to have knowledge at any level of depth is almost impossible. This results in delays in diagnosis and often leads to misdiagnosis.

What does the new UK Rare Diseases Framework outline?

We are at a critical time in the UK, where we have the potential to change the landscape of rare diseases. The new Framework updates the 2013 Rare Disease Strategy and sets out four priority areas to ensure the lives of people living with rare diseases continue to improve – through faster diagnosis, increasing awareness of rare diseases among healthcare professionals, better coordination of care and improving access to specialist care, treatments and drugs.

What will the NICE Process and Methods Review and the Innovative Medicines Fund (IMF) do to advance this?

These two initiatives offer the opportunity to help improve access to orphan medicines, which has the potential to impact patient care, improve outcomes for people living with a rare disease and create an overall benefit to society.

At Alexion, we believe the NICE Methods review is a vital opportunity for the rare disease community to engage with NICE and seek improvements in the way rare disease medicines are appraised. Similarly, the IMF is an important opportunity to improve access to promising treatments for those with rare diseases, by enabling doctors to use the most advanced treatments.

What is Alexion’s expertise in this field?

Alexion has more than 25 years of experience developing and delivering innovative medicines to transform the lives of patients and their families affected by rare diseases and devastating conditions. We continuously innovate and evolve into new areas where there is great unmet need and opportunity to help patients and families fully live their best lives.

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