Healthcare should make people’s lives better. That fact can hardly be contested. Yet for some patients with rare diseases, commercial interests are dictating who gets to access life-saving treatment and who doesn’t. Pharmaceutical companies have long been driven by global demand and the potential for the highest profits. In the past two decades, the market has exploded: pharma revenues worldwide have exceeded $1tn. For patients with common conditions, this investment in healthcare can only be good news. But the narrow focus of this strategy means that, in the UK, the one in 17 of us who will at some point be affected by a rare condition risk being forgotten.
That is until now. Healthcare providers, driven by a desire to make life-saving treatments more widely available, are increasingly finding new ways of getting them to patients for whom they would have previously been out of reach. Great Ormond Street hospital (Gosh) recently announced that it was taking the unprecedented step of attempting to obtain the licence itself for a rare gene therapy on a non-profit basis, after the pharmaceutical company that planned to bring it to market dropped out. If successful, it will be the first time that an NHS trust has the authorisation to market a drug for this kind of treatment. The move could act as a proof of concept for bringing drugs to UK patients that pharmaceutical companies aren’t willing to risk their profits on.
It is estimated that 3.5 million people in the UK are living with a rare disease, and that 95% of these conditions lack an effective treatment. Fifty percent of rare diseases appear in childhood and 30% of children with a rare disease will die before their fifth birthday. This simply isn’t acceptable. We need to do more to find new treatments and get them to patients quickly and affordably.
Gosh secured funding from charities, including my team, to bid for market authorisation for the treatment of “bubble baby” syndrome, a life-threatening condition that leaves patients without an immune system. If left untreated, it can be fatal within the first two years of life, with even the most common illnesses becoming deadly. But the new gene therapy allows affected children to live a normal life. Put simply, it is the difference between growing up or not.
Investment decisions by pharmaceutical companies are complex and influenced by many factors, including policy and regulatory frameworks, upfront costs and clinical feasibility. Even if a drug is proven to be an effective treatment for disease, is shown to be safe and is expected to generate millions of pounds a year, sometimes it’s not enough for a company to justify the investment.
This tension between patient benefit and profit has been a live debate since the inception of the pharmaceutical industry. However, in recent years there have been allegations of rampant profiteering at the cost of patients’ health. In 2015, Turing Pharmaceuticals increased the cost of a then 62-year-old life-saving drug called Daraprim, used to treat Aids, malaria and cancer, from $13.50 to $750 a pill. The decision caused outrage and the former CEO, Martin Shkreli, tried to justify the increase as bringing the price in line with other rare disease treatments. Of course, not all in the pharma industry behave in this way, but increasing the variety of ways drugs can be developed and marketed to patients will be hugely beneficial for the sector as a whole.
We are also seeing many drugs for treating rare diseases being dropped or paused in their development because of concerns over their commercial viability. Earlier this year, researchers at the University of Manchester were forced to find alternative funding for a clinical trial of a new gene therapy for Hunter Syndrome (MPS II) – a devastating genetic condition that in severe cases carries a life expectancy of only 10 to 20 years. The trial was initially funded by a pharma company, which then discontinued its investment for “commercial reasons” and returned the licence to the university. Researchers turned to our charity, LifeArc, for help to ensure that the trial, which had raised the hopes of patients and their families, could continue.
What we need are new business models for rare diseases that are win-wins: models that can deliver safe and effective drugs that don’t bankrupt healthcare systems. If governments, healthcare professionals, researchers and charities work in partnership, there is potential for us to reduce the often high costs of drug development and bypass big pharma business models altogether. Another solution is to create brand new routes for maintaining drug supply, as Gosh is pioneering.
Big pharma will always play a vital role in getting medicines to patients, but bringing some control for the development of life-saving treatments into the hands of those with patients’ best interests at heart is something that the industry desperately needs, too. The real challenge, of course, is changing what success looks like within the pharmaceutical industry. If we can stop treating people as commodities and instead recognise that transforming patients’ lives is priceless, then we can ensure that more life-saving treatments are reaching those who desperately them.
Dr Catriona Crombie is the head of rare disease at medical charity LifeArc
