Sixth European Conference on Rare Diseases and Orphan Products galvanises stakeholders
Like a happily married couple who periodically renews their wedding vows, the European Conference on Rare Diseases and Orphan Products (ECRD) allows stakeholders to rekindle their commitment to the rare disease cause. This biennial meeting draws together the rare disease and orphan drug community from across Europe and beyond to share triumphs, address problems, unstop bottlenecks, and move forward on all fronts – regulatory, research, policy, therapeutic, social. Organised by the European Organisation for Rare Diseases (Eurordis) and the DIA Europe, the sixth edition of the ECRD was held in Brussels from 24-25 May. Over 650 participants from 55 different countries attended.
A meeting of minds … and hearts
Perhaps the largest benefit of the ECRD is its capacity to galvanise stakeholders. The rich exchange between participants – researchers, health professionals, patients and patient organisations, policy makers, members of the biopharmaceutical industry, and bioinformatics specialists, breathes fresh hope and energy into the goals and struggles individual participants bring to the table. This year’s event was particularly pivotal for driving forward national rare disease plans, which the Council Recommendation on an Action in the Field of Rare Diseases urges EU Member States to create by the end of 2013. This year’s ECRD focused on several often complex issues relating to the implementation of the Council Recommendation. The organisation and development of Centres of Expertise for rare diseases was discussed at length, along with similar issues around the European Reference Networks, which still have to be defined and selected within the context of the Directive on cross-border healthcare, the adoption of which spurred discussion on how the rare disease community can best benefit from sharing knowledge and resources. While most experts agree that it is the data that must travel as much as possible, many practical questions – especially in the areas of the organisation of expertise and reimbursement – remain to be ironed out. Other topics addressed this year included Health Technology Assessment (HTA) in the EU Member States and how to develop a harmonised approach that will yield greater equity between countries while eliminating unnecessary duplication of effort. Another interesting subject involved the care of patients transitioning from paediatric to adult services. For many rare diseases, comprehensive services available for paediatric populations suddenly dry up when patients reach adulthood. Given that advances in care and treatment are allowing a longer life for many patients, this is an urgent question that needs addressing.
A rich programme
There were many interesting sessions offered within the context of seven distinct themes: National Plans for Rare Diseases; Centres of Expertise and European Reference Networks; Information and Public Health; Research from Bench to Bedside; Orphan Products and Rare Disease Therapies – Access; Orphan Products and Rare Disease Therapies – Regulatory; and Patients’ Empowerment. Of particular note were the opening Plenary sessions, which featured a keynote address from European Commissioner for Health and Consumer Policy, John Dalli, who set a tone of optimism by announcing that “action on rare diseases features prominently in the European Commission proposal for the new Health Programme and the new Research Programme for 2014 onwards” and that he was confident that the EU Member States would “adopt national plans on rare diseases in due time despite the difficult economic climate”..
Consult the speech of John Dalli
Other presentations of the opening sessions brought participants up to speed on the State of the Art of Rare Disease Activities in Europe (Dr. Ségolène Aymé, EUCERD); the State of the Art Around the World (Dr. Durhane Wong Reiger, Canadian Organisation for Rare Disorders); the Dynamic of National Plans in EU Member States (Dr. Edmund Jessop, National Health Service UK); and Cutting Edge National Strategy Case Studies from Germany, Belgium and France.
Other notable sessions throughout the two day event included the Introduction to Centres of Expertise; How Rare Disease Research can contribute to innovation; Introduction of European Reference Networks; Making rare diseases visible for research and public health; The Big Picture of Rare Disease Research Policy; The value and specificity of the rare disease business model; Improving Care through Clinical Guidelines; EU Infrastructure & Projects in the field of rare diseases and patient registries; EU Policy Developments in the Field of Access to Orphan Drugs; Health care pathways focusing on transition from childhood to adulthood; Novel reimbursement schemes as a potential way forward; Compassionate Use Programmes; and Ways to look at HTA for Orphan Drugs and Rare Diseases.
Stakeholders are already looking forward to the seventh ECRD, to be held in Berlin in 2014.
Visit the website of the 6th ECRD
Health Canada has granted marketing authorisation to Prochymal (remestemcel-L) for the treatment of acute graft-vs-host disease (GvHD) in children. Prochymal, from Osiris Therapeutics, is the first manufactured stem cell product to win regulatory approval, as well as being the first approved therapy for GvHD, a reaction of donor immune cells against host tissues and a complication of allogeneic hematopoietic stem cell transplant. Prochymal was approved under Health Canada's “Notice of Compliance with conditions” scheme, which allows patients access to treatments targeting unmet medical conditions and which have a favourable risk/benefit profile in clinical studies. Under the Notice of Compliance with conditions pathway, the sponsor agrees to conduct confirmatory clinical studies.
According to an article appearing in GenomeWeb Daily News a grant programme is underway in the USA that will fund studies exploring whole genome and/or whole exome sequencing applied to newborn populations. The five-year $25 million programme, being developed by the National Human Genome Research Institute and the Eunice Kennedy Shriver National Institute of Child Health and Human Development, has three principle goals: expanding newborn genomic data; performing DNA-based studies of specific disorders identified through newborn screening; and examining related legal, ethical, and social issues stemming from the application of genome sequencing to newborns. 
The 11 May issue of the Lancet contains an article that brings readers up to speed on the land down under … particularly Australia’s efforts to implement a national strategy for rare diseases similar to plans being developed across Europe. Australia has adopted the EU definition of a rare disease as a condition affecting one person per 2000 of the population or less. It is estimated that between one and two million Australians are affected by rare diseases, including some 400 000 children. 
An article appearing in the Chinese Medical Journal offers a snapshot of newborn screening activity in the Zhejiang province. According to the authors, almost all provinces in the country offer newborn screening programmes, mostly for congenital hypothyroidism (CH) and phenylketonuria (PKU). In Zhejiang, newborn screening for these conditions was launched in 1999. The authors describe the methods and results of the screening activity. Over 3.8 million babies were screened over a ten year period. Of these, 2309 cases of CH were detected and 155 cases of PKU. Some 454 CH patients successfully underwent therapy with another 93 still undergoing treatment. Some 75% of PKU patients followed long-term diet and/or drug therapy programmes. The development of charity projects has allowed low-income families in the province access to care via the Medical Aid Low-Income Household Youth Fund. 
An article in BioScience Trends takes a look at research for rare and intractable diseases in Asia and posits that three main elements are necessary for stimulating research for rare diseases: government support; social support; and support from special research initiatives and global information exchange platforms. There is much variation between rare disease policies and resources across Asia, with Japan, South Korea and Taiwan offering specific legislation for rare disease care. Other countries, such as China and the Philippines, are starting to consider how to manage rare diseases in their populations. 
