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Rare Diseases February 2019

Financial barriers are holding up breakthroughs in rare diseases


Brendan Martin

VP and General Manager, UK & Ireland, Alnylam Pharmaceuticals

Patients with rare diseases are often desperate for new therapies — yet lengthy discussions with health service providers about ‘cost-effectiveness’ can often be a barrier to drug access.

In his 17 years at the sharp end of innovative drug development, Brendan Martin — VP and General Manager, UK & Ireland, Alnylam Pharmaceuticals — has seen a significant, positive breakthrough in rare disease medicines. Ten years ago, he notes, there were around eight orphan drugs (developed to treat rare disorders) in Europe. “But today there are more than 150 of them. In the US, there are between 200 and 300 orphan drugs. These are not medicines that exist simply as ideas on paper or which are still in development but rather drugs that have been approved.”

Supporting research in rare diseases is essential

For patients or family members impacted by a rare disease, research into new treatments is so important. Patients with some rare diseases have had limited or no treatment options – ever.

New, innovative medicines being developed are frequently life-changing and, in some cases, life-saving. Many rare diseases also have a genetic component, and the impact of this research means hope for future generations of an individual family.

Benefits are being seen today and there is real optimism for the future. However, drug development challenges in this space are considerable, the costs are enormous, and the risks are huge, both for the drugs companies and their financial backers.

High-risk innovation requires new approaches to access

“For established companies, it’s estimated that every new drug costs about $2billion to develop,” explains Martin. “The costs for a start-up company, who also needs to build an infrastructure to bring that drug to patients, will be closer to $5 billion. That’s an enormous amount of money to put at risk.” Especially when you consider that around 90% of drugs that reach Clinical Phase 1 fail and never get to Phase 3; and, Martin points out, of those drugs that do make it to market, around only 30% will recoup their research and development costs.

Both pharmaceutical companies and health services want to see these treatments benefitting patients and carers. But in an area where scientific advances are evolving so quickly, how we assess and make these medicines available needs to match that evolution. If not, the result means delays for patients who, in some cases, may not have time to wait.

Assessing the full value of a medicine is a shared responsibility

“The industry has a responsibility to create drugs that are safe and effective,” says Martin. “While neither of these are simple to do, establishing that a medicine is effective usually takes a shorter amount of time than being able to demonstrate that it has a manageable and acceptable risk-benefit profile.

New medicines may also have other, indirect benefits for society that have not typically been measured, such as the ability to go back to work, impact on carers, a reduced burden on health services and opening the door to further discovery.

There is another significant barrier to progress, however. A financial one. “This is something that, quite rightly, frustrates patients with rare diseases and their families,” says Martin. “Because, in many cases the science is solved, and the drug is approved; but discussions around cost-effectiveness can delay access for two, three or four years.

“We are encouraged by the emerging trend of health services, in a number of European countries, to work with industry and patient organisations to find better ways of providing early access to innovative new medicines. These health services are working to continually assess the clinical and cost-effectiveness of medicines once they are available, addressing any uncertainties using real-world experience.

Collaboration is a crucial element of evolving the national processes that are in place to make medicines available in rare diseases. The collective goal is to improve patients’ lives, while discussions over price and cost-effectiveness take place, but without people missing out.

Rare Disease Day is another important reminder that there is so much positive change happening – but that everybody across the community has a role to play in ensuring that everyone who could potentially benefit from these advances has the chance to do so.”


Date of preparation: February 2019

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