While we all love Paris in the springtime, the rare disease community also found autumn in Paris pretty fantastic this year!
Rare disease stakeholders undertook a whirlwind of activity as three back-to-back rare disease events were held earlier this month in Paris under the patronage of the French Presidency of the European Union. The first, the European Symposium on Rare Diseases, notably contained an affirmation from French President Nicolas Sarkozy that France would renew its expiring national rare disease plan. The French plan is the sole in the world with a specific budget allocated. Its four year term comes to an end this year. President Sarkozy confirmed that the new plan would enter into action by 2010 at the latest, following a period of reappraisal and reprioritisation. At the European level, the President expressed support for the EC Communication, Rare Diseases: Europe’s Challenges, indicating that under the current patronage of the French EU Presidency the contents of this vital document would receive priority status. The Symposium featured presentations from rare disease experts on the performance of the French rare disease plan – considered a model by many other countries. At the European level, recent advances and perspectives in the field were presented and the benefits of European orphan drug regulation were reviewed. Other sessions of the day-long event emphasised the value of European rare disease and orphan drug research; considered the need for pan-European organisation for managing patient needs; and reiterated the crucial role patient organisations play in forwarding rare disease initiatives.
The next event, European Health at the Service of Patients, took place at the Institut Pasteur in Paris, and featured presentations on improving access to diagnostics and quality healthcare. Invited speaker Terkel Andersen (Eurordis), emphasised that there could be no equal rights for patients without EU-level collaboration. The session also brought home the point that individual Member States need to commit to sharing resources. Shared expertise can foster harmonised standards of care – considered critical in view of the rarity of disorders and the dispersion of expertise. A key discussion considered how the rare disease community could access primary care physicians to furnish them with resources to help determine when and where to refer rare disease patients. Orphanet, with its roster of partners in all 27 EU Member States (and beyond), was evoked as the leading example of successful pan-European collaboration.
Next, it was off to the European Platform for Patients’ Organisations, Science and Industry (EPPOSI ) workshop taking place at the Assemblée Nationale. The workshop, now in its ninth year, was hosted by the French deputies representing the country’s working group for rare diseases within the French government. The theme of the workshop was Partnering along the chain and across the borders: Sharing strategies and tools for access to diagnosis and treatment. Several topics came under fiery debate during the two day event: The first considered whether permissive off-label practices hinder drug development for specific indications. France, for example, under Article 56 of its national social security law that specifies the reimbursement of non-medicinal treatment products (nutritional supplements, special skin creams, et cetera), also allows for reimbursement of the off-label use of medicinal products when no other treatment exists. But in the long-term do these compassionate policies discourage the development of products created and tested for a specific indication currently treated off-label?
Another debate centred on the current procedures for appraising clinical added-value for products that have received marketing authorisation. This procedure, used to determine pricing, presently takes place at the Member-State level and is enormously heterogeneous and often lengthy, resulting in a lack of equitable access between countries. The point was made that the orphan drug regulation was created to boost patient access to treatments, but this bottleneck at the end of the process is hindering treatment availability.
Another pertinent point arose around the transparency of clinical trials. EudraCT , the database of all clinical trials commencing in the EU from May 2004 onwards is inaccessible to the public. It was suggested that Europe needs an open-access model similar to the USA-based ClinicalTrials.gov registry.
The Epposi workshop yielded a bounty of reflections, concerns and some suggestions which, if taken up, give participants some real homework to complete:
Patient groups called for European-level funding for the reimbursement of orphan medicinal products. Eurordis leader Yann Lecam echoed the need for sharing costs equitably at the European level. Assuming costs at the national level is simply not feasible for many MS, and regional-level and hospital-level burden of cost schemes, both of which many countries employ, do not work and hinder equity.
Patient groups also expressed concern for an increasingly cautious policy on the part of regulatory ethics committees looking for “zero risk” scenarios for clinical trials. Patients would like to have more responsibility for determining the risk/benefit ratio for a product under development.
Another suggestion called for financing what is known as the “Death Valley” research area. Whereas basic research (typically conducted in academic settings) has adequate funding, and clinical research has industry resources to work from, there is an empty wind blowing through the critical area of research that translates fundamental findings into clinical applications. Public/private funding collaboration could give a crucial boost to this stage of research.
The recent recommendations of the Pharmaceutical Forum vis-à-vis orphan drugs were greeted with enthusiasm (See the related article in this issue of OrphaNews Europe).
Finally, the value of innovation was evoked. High prices for many orphan medicinal products result from small patient populations for the development and eventual sales of products, but also are caused by the unknowns of the market. Orphan medicinal products are frequently innovative products, produced for markets that are unknown and unshaped. Innovation boosts research for unmet medical needs and thus its rewards are merited.
French Minister of Health Roselyne Bachelot brought the workshop to an end with an encouraging affirmation of her commitment to renewing the national plan for rare diseases. She also echoed President Sarkozy’s support for European-level action as delineated in the EC Communication.
The next and last official rare disease event taking place under the patronage of the French EU Presidency is the European Conference on National Strategies on Rare Diseases in Europe, "State of the art and sharing experiences: toward EU Recommendations” being held on 18 November 2008 at the French Ministry of Health in Paris.
