Rare disease research: Now is the time to act together

Written by Kim Stratton on 5 March 2018 in Opinion
Opinion

Breakthrough discoveries, increased awareness and stakeholder collaboration will transform the lives of people living with rare diseases, writes Kim Stratton.

Breakthrough discoveries, increased awareness and stakeholder collaboration will transform the lives of people living with rare diseases | Photo credit: Adobe Stock


The EU’s orphan drug legislation continues to incentivise the discovery of innovative treatments for rare diseases. Today, over 140 rare disease medicines are approved in the EU, with a further 450 orphan drugs in the pipeline.

Exciting cutting-edge technologies, like gene and antibody therapy - the next generation of therapies for rare diseases - are emerging. Rare disease policies, including some that provide fast or accelerated access to therapies, have been successfully introduced in countries such as Germany and France.

But more must be done. On average it takes five years for a rare disease to be diagnosed and just five per cent of conditions have an approved treatment. 


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Almost nine out of every 10 treatments which reach orphan status have failed or not yet made it to patients. 

Even if a therapy has been licensed, there’s no guarantee of access – in Europe only Germany funds all approved orphan medicines; in contrast, just half of these medicines are reimbursed in England.

Around half of all rare diseases begin in childhood and one in three children with a rare disease will not live beyond their fifth birthday. 

For Shire, the leading global biotech in rare diseases, our primary responsibility is to champion these patients and enable their families to lead better lives. That includes major investment in research, the focus of this year’s Rare Disease Day.


Rare disease by numbers

  • Around 30 million people in the EU are affected by rare diseases
  • In Europe rare diseases are defined as conditions that affect fewer than five in 10,000 people
  • 80 per cent are genetic and around half of patients are children
  • Many patients endure lifelong suffering and reduced lifespan - around one in three children with a rare disease will not live beyond their fifth birthday
  • It is estimated that 95 per cent of known rare diseases do not have a treatment option

If we are to sustain innovation, speed up diagnosis, accelerate access, build support systems and ultimately improve patient outcomes, then all stakeholders - payers, policymakers, patients, key opinion leaders and industry - must come together and engage in open, solution-oriented discussions that consider all perspectives.

Transparency will be essential for this dialogue and we believe it’s vital for driving innovation too. Sharing information and clinical findings on the underlying causes of rare diseases and approved or investigational therapies boosts collaboration.

In January 2018, Shire became one of the first biotechs to announce an open access policy that mandates all Shire research materials be made freely and publicly available, and licensed in ways which allow others to build on and re-use research.

In parallel, we are investing heavily in the development of a new generation of treatments for rare diseases - therapies which are first in class, potentially best-in-class or novel. Personalised medicines that target specific genetic mutations are key. It’s a developing medical field, and we’re making excellent progress. 

"Ultimately, it’s vital we all work together to agree the right path forward. There have never been so many possibilities in the fight against rare diseases. Now is the time to act together, build on emerging momentum and make the right societal choices on behalf of the most vulnerable"

Shire recently submitted the company’s first application for a gene therapy for the treatment of haemophilia - an approach which has the potential to be translated into trials for other conditions too. 

Research and innovation will achieve little, however, if patients are unable to access treatment.

Europe’s standard health technology assessments (HTAs) are not well suited to the unique features of rare diseases with their small patient populations. Reimbursement is often slow or even denied.

Sharing a responsible and sustainable approach to pricing means striking the balance between finding a solution for access to existing medicines and sustaining investment for future therapies in difficult, high-risk research areas.

Ultimately, it’s vital we all work together to agree the right path forward. There have never been so many possibilities in the fight against rare diseases. Now is the time to act together, build on emerging momentum and make the right societal choices on behalf of the most vulnerable.

Here at Shire, we’re committed to championing that challenge.

About the author

Kim Stratton is Head of International Commercial at Shire

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