Imagine being able to give life-saving medicine to sick people without having to rely on big pharmaceutical companies? We may have found a way | Doctor Catriona Crombie

Hhealthcare should make people’s lives better. That fact can hardly be disputed. Yet for some patients with rare diseases, commercial interests determine who gets access to life-saving treatments and who does not. Pharmaceutical companies have long been driven by global demand and the potential for the highest profits. Over the past twenty years, the market has exploded: pharmaceutical revenues worldwide have surpassed $1 trillion. For patients with common conditions, this investment in healthcare can only be good news. But the narrow focus of this strategy means that in Britain ours at seventeen who at some point are affected by a rare condition are at risk of being forgotten.

That is so far. Healthcare providers, driven by a desire to make lifesaving treatments more widely available, are increasingly finding new ways to get them to patients for whom they would previously have been out of reach. Great Ormond Street Hospital (Gosh) recently announced it was taking the unprecedented step of licensing a rare gene therapy itself on a not-for-profit basis, after the pharmaceutical company planning to commercialize the therapy dropped out. If successful, it will be the first time that an NHS trust has the permission to market a drug for this type of treatment. The move could act as a proof of concept for bringing medicines to British patients that pharmaceutical companies don’t want to risk their profits on.

It is estimated that 3.5 million people in Great Britain living with a rare disease, and that 95% of these conditions there is no effective treatment. Fifty percent of rare diseases occur in childhood and 30% of children with a rare disease die before their fifth birthday. This is simply not acceptable. We must do more to find new treatments and get them to patients quickly and affordably.

Gosh has secured funding from charities, including my team, to bid for marketing authorization 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 diseases becoming fatal. But the new gene therapy ensures that affected children can lead normal lives. Simply put, it’s the difference between growing up or not.

Investment decisions made 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, it is sometimes not enough for a company to justify the investment.

This tension between patient benefit and profit has been a current debate since the inception of the pharmaceutical industry. However, in recent years there have been accusations of unbridled profiteering at the expense of patients’ health. In 2015, Turing Pharmaceuticals raised the cost of a then 62-year-old lifesaving drug called Daraprim, used to treat AIDS, malaria and cancer, from $13.50 to $750 per pill. The decision sparked outrage and its former CEO, Martin Shkreli, tried to justify the price increase by bringing the price in line with other treatments for rare diseases. Of course, not everyone in the pharmaceutical industry behaves this way, but increasing the variety of ways in which drugs can be developed and marketed to patients will be hugely beneficial to the industry as a whole.

We are also seeing many medicines for the treatment of rare diseases being halted or paused in their development due to concerns about their commercial viability. Earlier this year, researchers at the University of Manchester were forced to find it alternative financing for a clinical trial of a new gene therapy for Hunter syndrome (MPS II) – a devastating genetic disorder that carries a life expectancy of just 10 to 20 years in severe cases. The trial was initially funded by a pharmaceutical company, which subsequently withdrew its investment for “commercial reasons” and returned the license to the university. Researchers turned to our charity, LifeArc, for help to ensure 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 deliver win-win situations: models that can deliver safe and effective medicines that don’t bankrupt healthcare systems. If governments, healthcare professionals, researchers and charities work together, there is potential for us to reduce the often high costs of drug development and bypass the business models of big pharmaceutical companies altogether. Another solution is to create brand new routes to maintain the supply of medicines, as Gosh is pioneering.

Big Pharma will always play a crucial role in getting medicines to patients, but putting some control over the development of life-saving treatments in the hands of those who have the patient’s best interests at heart is something the industry is also working hard to achieve. need. The real challenge, of course, is changing what success looks like within the pharmaceutical industry. If we can stop treating people like commodities and instead recognize that transforming the lives of patients is invaluable, then we can ensure that more life-saving treatments reach those who desperately want them.