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More than merely placid test subjects, empowered and motivated patients and families are paving – and paying – the way for new drugs. 

If someone from a pharmaceutical company asked you for money on the street, would you give it to them? Few of us would open our wallets for these multinationals. Yet each of the three small companies behind three novel treatments for Duchenne muscular dystrophy (DMD) has benefited from charitable backing. Such donations are far from being naïve gifts – they are tools forged from people’s harrowing experiences, used to shape a better future.

This link between small companies and patient groups is created out of necessity, explains University of Oxford DMD researcher Kay Davies: “A lot of major [pharmaceutical companies] don’t understand muscle in the way that is needed to be able to deliver on this,” she notes. Without muscle disease teams at big drug companies, governments and charitable funds have to get more involved in funding those who are doing the fundamental research needed. And while the terms that patient groups offer might be more generous than those from traditional investors, the groups aren’t looking to pour money into a black hole. “If they take the risks, they have to be in line for some of the royalties,” says Davies.

“It’s not just about the financial support,” says Hans Schikan, CEO of Prosensa, a Dutch company developing DMD treatments. “At least as important is the dialogue with patient organisations. We have a full-time patient group relations manager; every single letter gets a reply. I’m in contact with patient organisations, sometimes twice a day.” Those exchanges improve Prosensa’s understanding of DMD and how trials should be run – making them better for patients by providing travel allowances and continued treatment, for example.

Travel allowances are crucial in getting DMD boys to trials. Take Leo Le Gal, for example: he’s been from the UK to the USA every eight weeks since August 2013. The Le Gal family has had help from the US National Organization for Rare Diseases (NORD) to pay for the flights and, in turn, they founded a charitable association called ‘Team Leo’ to raise money for research and to lobby for quicker access to possible treatments. To do this, the Le Gals might pass donations on to the UK’s Muscular Dystrophy Campaign; such family funds are common, says Nic Bungay, the charity's director of campaigns, care and information.

The Muscular Dystrophy Campaign is primarily a research charity, having backed some of Davies’ work on DMD. However, it’s now pushing for the UK government to act in anticipation of the potential treatments on the horizon for DMD. “Centres and clinics need more resource to take part in research and support families better,” says Bungay. “For boys with Duchenne to take part in clinical trials, optimum levels of care must be provided across the country; otherwise, you’re not comparing like with like. We want to see that everyone’s on a level playing field and can take part in research.”

As well as funding companies, subsidising travel and lobbying governments, DMD patients are pushing drug regulators to recognise the urgency of their situation. Back in 2009 the European Medicines Agency (EMA) hosted a workshop bringing together patient groups and disease experts, recalls Jordi Llinares, Head of Orphan Medicines at the regulator. “We had a very honest exchange of information that opened my eyes to what the final recipients of the drugs are expecting from the development and from us.” And, according to the EMA, over the past decade, DMD groups have benefitted as the EMA has involved patients in “basically all” of its processes, such as advising regulatory committees about DMD drugs.

Kay Davies welcomes these close ties, but warns that the huge patient pressure surrounding DMD mustn’t unduly influence regulators. For this reason, she argues that patients and their representatives should not be making decisions directly. Davies cites her experience with the MDEX Consortium, which was set up to promote research into muscular dystrophies: “We had a GP who had a DMD son, and the person who ran [the charity] Action Duchenne as committee members, but we couldn’t have them as voting members,” she says. “It’s very important and it took a long time to make them realise why, because the decision has to be scientific and not emotional.”

But thanks to their financial clout, charities are able to shape the priorities of companies developing drugs. In August 2014, for example, US non-profit CureDuchenne announced up to €5 million in funding for Prosensa, much of which will reach beyond its lead treatment. The funding will help bring a follow-on drug into trials to help a different, smaller group of DMD boys and support development for other subgroups.

Even though such efforts have contributed to the seemingly imminent arrival of much-needed new DMD drugs, there’s no sign that they will abate. “We have so many examples of people who have become extremely active in raising funds, or even setting up their own company,” says Schikan. “Ilan Ganot, parent of a Duchenne boy, once wrote us a letter, asking ‘Can you help me?’ He used to be a banker with JP Morgan. Now he has his own small company, Solid Ventures, working on three different approaches to help with DMD. People like him are really experts – parents who set up activities to help their children. That’s where I get inspiration from.”

Kay Davies sits on Mosaic’s Editorial Advisory Group and is Deputy Chair of the Wellcome Trust.

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