Peter O'Donnell
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It is essential that rare diseases be made a priority at the European level, in order to deal properly with the needs of several
million citizens suffering from misdiagnosis, and thus receiving no treatment to cure their diseases." That is the bold introduction
to the document currently being debated in the European Union.
The European Parliament committee on industry and research is midway through its discussions of a European action plan for
rare diseases, and later this year some concrete action may be agreed upon to turn fine words into deliverables. It is a debate
that the clinical trials sector might wish to monitor for its own purposes.
The current estimate is that rare diseases altogether affect some 30 million Europeans, but each disease affects only a small
number of individuals—sometimes fewer than a dozen in any given country.
So far over 7000 rare diseases are known to exist, and figures before the European Parliament claim that two new pathologies
are described every week in medical publications. "Unlike other public health or research issues, what is at stake here is not merely making up for lost time with regard to
a neglected problem, but devising tools or permanent arrangements which will enable the specific features of these diseases
to be taken into due account for all time to come," claims Françoise Grossetête, the parliamentarian chosen to lead the discussions
in the Parliament.
What she has in mind is simultaneously mobilizing politicians, institutions, patient associations, health professionals, sufferers'
associations, carers, researchers, and industry.
A team effort
Cooperation is central to Grossetête's thinking, because the very nature of rare diseases means that expertise in them is
limited locally.
"Since no EU member state is capable of combating rare diseases on its own, access to information, diagnostics, carers, and
research needs to be organized into coherent and coordinated networks—usable by all those involved—of methodologies and shared
approaches at national and European level," she argues. "The Europe-wide approach is therefore essential."
Already, of course, the EU has its orphan medicines legislation, designed to encourage the pharmaceutical industry to develop
and market orphan drugs through a combination of tax incentives, protocol assistance, and enhanced commercial exclusivity.
The system is working well, within its limits. The committee for orphan medicinal products held its 100th meeting in March,
and nearly 600 products have been granted orphan designation in Europe since the scheme came into effect in 2000.
Grossetête sees other positive trends. Work on rare diseases has benefited the development of therapies for more common diseases,
and as the range of therapeutic approaches multiplies with genetic and cellular therapies and 'à la carte' treatments, "the
innovative therapies which are developed for rare diseases are a foretaste of the ever more personalized medicine of tomorrow."
In economic terms too, she says, "the explosive growth of opportunities for clinical development in the field of rare diseases
opens up fresh prospects." But here she insists on the need for a more collaborative approach.
She is under no illusions about the constraints pharma operates under, so she wants to see a framework that will overcome
companies' reluctance to take undue risks.
Cost vs benefit
"Despite the existence of European measures encouraging the development of orphan medicinal products, the pharmaceutical industry
is even less willing to take risks in the initial stages of developing treatments (from preclinical to Phase II) than it is
with more common diseases.
For the industry, the relationship between financial risks and profit prospects becomes attractive only later on in the process
of developing new treatments.
Between proof of concept and the investment of the substantial private funding required before the marketing authorization
stage is reached, rare diseases have to go through a death valley much longer than that faced by commoner diseases, with their
much greater market potential."
Grossetête's solution is to create new development tools and optimize the development cycle for treatments to minimize costs.
At the same time, she favors new methods of sharing risks between private and public funding, which will enable "uneconomic"
stages of development to be funded.
The tools she envisages are new networks and closer collaboration among researchers and drug developers. And she warns that
otherwise, Europe's drug development prowess will be overwhelmed by international competition.
"If measures are not taken quickly, there is a real risk that certain treatments will never see the light of day and that
the only treatments which will be marketed will come from the other side of the Atlantic, at prohibitive prices," she says.
