‘Rare Disease Day’ highlights need for research
pharmafile | February 29, 2012 | News story | Research and Development, Sales and Marketing | Genzyme, Rare Disease Day, Shire
Today has been designated as Rare Disease Day around the world, with researchers, regulators and the industry all raising awareness of the need for more research.
Rare Disease Day was launched and is co-ordinated by the European Organisation for Rare Diseases – EURORDIS, a federation representing more than 500 rare disease patient organisations in 46 countries. The campaign involves rare disease groups in 60 countries including the EU, the US and Canada, Russia, Brazil, Argentina, Australia, Japan and China.
Progress in understanding rare diseases is moving ahead rapidly, often thanks to greater understanding of genetic problems, which are behind 80% of rare diseases.
This has made rare diseases an increasingly important area for pharma and biotech, with more and more treatments coming onto the market for rare and ultra-rare conditions. But these drugs are not without their controversies – treatments such as Shire’s Elaprase for Hunter’s Syndrome and Genzyme’s Myozyme for Pompe Disease have helped address previously untreatable diseases, but are extremely expensive.
As more and more treatments reach the market, it is raising questions about the sustainability of paying for these medicines.
At the same time, there are many rare diseases which are still without adequate treatment. When added together, the sum of patients with rare diseases is very considerable – 5,000-7,000 rare diseases have been identified to date, affecting 30 million Europeans today.
Commenting on the day, EU Commissioner for Health, John Dalli said: “With so many of our citizens affected, rare diseases are by no means a rare or marginal problem. Our first task has been to bring together the scarce resources that are currently fragmented across individual EU countries and to spark off joint action to help patients and professionals share expertise and information across borders.”
Commissioner Dalli said the role of the EU should be to ensure that enough funding is being made available for the research necessary to combat rare diseases.
This year is the fifth annual Rare Disease Day, and the theme of this year’s event is the need for collaboration and mutual support in the field of rare diseases, with the theme being ‘Rare but strong together’.
Rare disease is defined differently around the globe. About 7,000 known rare diseases have been identified. In the US, a disease is rare if it affects fewer than 200,000 people, which means that around 30 million Americans are afflicted with rare diseases.
In Europe the definition is slightly broader, considering a disease as rare when it affects no more than 5 in 10,000 people in EU – equivalent to around 250,000 people or less for each disease.
The US Orphan Drug Act (ODA) of 1983 has been the single biggest catalyst for encouraging research, and more than 390 orphan products for treatment of rare diseases have been approved by FDA since the legislation came into effect. EU legislation followed in 2000, and has also helped incentivise research.
US regulator the FDA is also taking part – among the events it will host is an ‘FDA Rare Disease Patient Advocacy Day’ on 1 March. This aims to engage and educate the rare disease community on regulatory processes related to rare diseases.
The meeting will consist of live and interactive simultaneous webcast of presentations provided by FDA experts from various centres and Offices, as well as from outside experts.
Andrew McConaghie
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