The participants discussed the need to expand efforts to inform the rare diseases community about clinical studies and the location of experts, particularly in the US. There was general agreement that the European countries have placed more emphasis on identifying centers of excellence than in the US so that patients with rare diseases know where to go for treatment. According to NORD's Peter Saltonstall, public policy is another major issue. "Rare diseases are not well known," Mr. Saltonstall said. "The people controlling funding and regulation are not as well informed as they need to be."
Concerns around diagnosisIn the area of primary immune deficiency diseases, Dr. Hammarstrom said that although the span from debut of disease to diagnosis and treatment has been shortened, there is still a considerable time lapse. "We need to press this point," Dr. Hammarstrom said. "What about neonatal screening? In this challenge the US has taken the lead and Europe is lagging behind. We have been discussing it at the EU Parliament."
Neonatal screening, which has gained acceptance in the US, was viewed by the participants as a global step worth exploring. The US has taken steps to expand newborn screening programs for 29 different diseases and there is discussion of expanding the programs to include additional disorders. One concern is what to do with diagnosed patients. Is there sufficient infrastructure to transfer them into research or treatment centers for the individual rare diseases?
Yann Le Cam, in his capacity as Vice Chair of the EU Committee of Experts on Rare Diseases, explained that a policy project sponsored by the European Commission is developing the future policy of the EU on newborn screening. He added that the project is ongoing and that "an explicit policy should be proposed in 2012 and possibly recommended to all EU member states before 2014."
|SOURCE CSL Behring|
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