Uphill Work to Realize Dreams of Rare Disease Treatment

EURORDIS started its late-February Brussels symposium on rare diseases with the expression of a dream – that one day all patients would have access to effective treatments. Pisana Ferrari's eloquent and touching call – and her tale of recovery from a rare lung disease - offered a demonstration that dreams can come true. So did Yann Le Cam's progress report on successful launches of a growing number of rare disease treatments over recent years, and Elizabeth Vroom's account of improvements in treating Duchenne's, and Lucia Monaco's revelations on the first ex-vivo gene therapy for bubble boys.

But the dream still hasn't come true for everyone – as many of the audience at this symposium know only too well. The challenge they set themselves at this meeting was to see what can be done to make the dream available to everyone.

At the end of the first day, how far did they get?

They spent time trying to understand more of what some of the key players want – the drug firms, the investors, the HTA agencies and payers, and of course the patients. And there was plenty of agreement that this is a critical moment, that solutions are urgent, and assurances from everyone that they are ready to look at common solutions.

The calls for collaboration and avowals of readiness to work together echoed throughout the day, along with repeated insistence on the urgency of finding solutions, on the need for bureaucrats to move fast, on greater attention to patient thinking. As Ana Palma of Sobi put it, if we share the environment and we share the challenges, why not go for shared solutions too?

But at the same time, industry bosses and investors insisted on the overwhelming importance of getting the right price, and on their needs for a predictable commercial environment with strong patent protection and other incentives. They extolled the courage displayed in making risky investments, and warned that newer medicines coming down the pipeline will be even more expensive than today. They criticized the regulatory fragmentation that leaves national health technology assessments so diverse that a common cross-border approach is just not feasible, and they described current evaluation processes as out of touch with leading-edge research in rare diseases.

Meanwhile, HTA agencies and payers were embracing the idea of harmonizing HTA assessments across member states and expressing hopes for achieving "the right price". But they recognized that better tools are needed and urged drug firms to do their HTA preparations earlier and agree on post-marketing studies before they launch.

And patients demanded patient-focused approaches, wider access to treatment, greater generosity from payers, and closer collaboration in research. And they expressed concerns over industry price-gouging whenever the opportunity offered.

The exchanges were lively and pointed. But as an impartial outside observer, I was not clear how far the discussion took anyone towards solutions.

Yes, collaboration and patient-centered approaches and wide access and fair prices were the buzzwords of the day. But were they anything more than slogans. Despite their protestations about collaboration, the HTA agencies represented – all, at best, only national, and many of them merely regional - do not practice very much collaboration because they have different methods and goals and values and political masters. Even a promising pilot on collaboration among some agencies and companies has still to establish collaboration with a wide range of other related organizations working in the same field. "Collaboration is common to all of those organizations", underlined Ana Palma - but at present they don’t actually collaborate with one another…!

The easily-expressed concept of patient-centred approaches suffers inevitably from the fact that patients as individuals have widely diverging views as individuals. They fail to collaborate sufficiently or effectively, it was suggested, often making it hard for possible partners to identify reliable patient representatives. And despite the emphasis on the virtues of patient-based evidence, there was little evidence of agreement on exactly how to get it.

When Ri de Ridder of the Belgian health insurance agency, INAMI, proposed putting patients into the cockpit of reimbursement decision-making to guarantee the citizen perspective is taken on board, he found it difficult to answer when Hans-Georg Eichler of the EMA asked whether payers would reimburse a drug that had flimsy evidence just because some patients were ready to risk using it.

There's a risk in using slogans instead of clear arguments. Drug firms may all call for predictability, but that doesn't mean much until they are required to define as individual firms just what that means for them. There was talk of the merits of "value-based pricing" – but on the table at the meeting was a paper from Eurordis itself which questioned this. And after the term "fair price" came up yet again, Karen Facey of HTAi recognized the challenge in getting agreement on defining "fair". She suggested it should be defined by ethicists and philosophers rather than economists… which prompts reflection on how far the industry representatives with their call for "the right price" would back her suggestion.

Stella Blackburn of Quintiles commented with regret on the continuing adversarial relationship between drug firms and payers. But maybe recognizing that reality is a prerequisite to moving towards a solution. As Hans-Georg Eichler said, "We can only collaborate where we have common goals, otherwise it's meaningless".

Because when a drug firm says "we want to provide patient benefit," that is easily said, but it isn't precise enough to indicate where that common interest lies. Making patient-based evidence the core doesn't amount to much in operational terms until there is clear agreement on the nature of patient-based evidence.

Whatever sympathies outside observers might hold for the attempt, it does not appear that a route has yet been identified to find the answers so many participants at the Eurordis symposium said they were seeking. A tendency to fall back on comfortable generalizations and fuzzily undefined slogans gives the impression of resorting to smokescreens to disguise underlying disagreements.

When a meeting starts with an eloquent call of "I have a dream", it isn't really enough if the only answer to emerge is "Dream on!"

Peter O’Donnell is a freelance journalist who specializes in European health affairs and is based in Brussels, Belgium.