Sativex for multiple sclerosis patients
Sativex for multiple sclerosis patients © Getty

Establishing profitable drug pricing deals with health agencies might be top of the agenda for many pharma executives in 2017. But for those seeking to develop drugs to treat rare diseases, it remains just one among many of the challenges they face.

Just as significant is how to manage the drug discovery and development process, which is more complex than for many mainstream drugs.

The development of any drug is an inherently risky business, requiring millions of dollars of investment and years of research and development. However, these risks can be even more extreme in the case of rare or “orphan” diseases, where small numbers of patients make it harder to recruit people for clinical trials.

As the patient populations are so small for each rare disease, trials become more intimate and drug companies are forced to work closely with their test groups and be more nimble when reacting to the needs of patients.

Flemming Ornskov, chief executive of pharmaceuticals group Shire, says trials for orphan drugs require a different approach and a longer-term perspective than for more common treatments. Shire is a rare disease drug specialist with more than two-thirds of its portfolio and three quarters of its new product pipeline dedicated to orphan diseases.

“If you look at the numbers, the trials are significantly smaller, but if you look at the time it takes to identify patients, get [them] to the treatment centre and the follow-up, which in many cases can be a decade, we are talking about a very significant effort,” he says.

“The investment is of a different profile than if you did a short-period clinical trial for a well-known disease.”

He gives the example of the paediatric clinical trials for Shire’s drug Idursulfase. Idursulfase is used to treat Hunter syndrome, a rare disease that affects boys missing an enzyme needed to remove waste products in the body, causing physical and neurological disability. In order to recruit 42 patients, the company has opened centres in Canada, Mexico, Spain, the UK and the US.

Justin Gover, chief executive of GW Pharmaceuticals, a company that uses drugs derived from cannabis to treat rare forms of epilepsy, says his business has had to be sensitive to the “very intimate relationship” between doctors, children and families. Because patient groups are so small, relationships are therefore closer than they might be in larger, more mainstream research programmes, where recruiting sufficient patients for clinical trials is more straightforward.

“Physicians often refer to [the patients] as ‘their children’,” he says.

Patient support groups, which raise awareness and represent the interests of sometimes no more than a handful of families, say that drug companies have made progress in recent years in terms of listening and responding to the needs of patients.

“Over the past few years, things have really improved in terms of companies taking on our advice and putting forward our patients’ voices,” says Diana Ribeiro, chief executive of Action Duchenne, a support group that represents about 2,000 boys in the UK who suffer from a rare form of muscular dystrophy.

For all the organisational difficulties and expense, however, rare diseases present drugmakers with a significant financial opportunity.

Global sales of orphan drugs are forecast to grow by more than 11 per cent per year until 2022 to $209bn, according to research group EvaluatePharma.

With a growth rate more than double that expected for other prescription drugs, it is anticipated that orphan drugs will account for more than a fifth of total drug revenues within the next five years.

The development of orphan drugs has also been helped by a more supportive regulatory environment, starting with the 1983 Orphan Drug Act in the US that has enticed dozens of small biotech companies to develop treatments as well as some of the bigger groups. The act sped up regulatory approval for orphan drugs and provided protection from potential competitor products for up to a decade.

The EU has pushed the fight against rare diseases further. In 2009, it recommended national plans to align diagnosis, treatment and support for patients.

But Michael Goettler, global president of rare disease at the US drug company Pfizer, says that although the “regulatory environment has dramatically improved”, challenges remain around diagnosis. It is still taking too long for healthcare systems to diagnose many rare diseases, he says. “It can take five or 10 years in some cases — the whole system needs to be better aligned.”

A study carried out by Pfizer last year found that fewer than one in 10 patients with a rare disease living in 11 countries “receive disease specific treatment”.

David Meeker, executive vice-president of Sanofi Genzyme, a division of the French drugmaker Sanofi, says: “We are still finding undiagnosed patients even in the most sophisticated medical systems.”

The diagnosis problem becomes worse the rarer the disease, notes Mr Meeker. “It’s an endless battle,” he says.

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