A life-saving present: Rare disease emergency care guidelines available in six European languages on the Orphanet website
As was reported in the 30 January 2008 issue of OrphaNews Europe, Alexion Europe, a subsidiary of Alexion Pharmaceuticals, is providing funding for the translation of Orphanet rare disease emergency guidelines (originally prepared in French) into five other languages (English, German, Italian, Portuguese and Spanish). Rare disease patients in a health emergency situation - whether or not the situation is directly related to their illness - may encounter emergency room professionals unfamiliar with their particular disorder and unsure of how to administer emergency services appropriately and safely. In response to this, Orphanet started creating rare disease emergency care guidelines to be distributed to emergency and intensive care hospital units and also made available on the Orphanet website. Guidelines for almost 20 rare diseases are already available in French, created through funding from the first French National Plan for Rare Diseases.
Now, the first guidelines in other European languages have been prepared and are either available or being finalised. Emergency care professionals will be able to consult in six European languages information concerning the nature and progression of a particular rare disease, possible emergency scenarios that can occur with the condition, medicinal products typically prescribed and their possible interactions with other products, as well as emergency procedure recommendations, including how to evaluate the severity of the emergency condition, possible immediate therapeutic measures to take, anaesthesia administration considerations, website links and references for the diseases osteogenesis imperfecta, Marfan syndrome, Dravet syndrome, paroxysmal nocturnal haemoglobinuria, nonhistamine-induced angioedema, tuberous sclerosis, amyotrophic lateral sclerosis, acute hepatic porphyria, and porphyria cutanea tarda. These first emergency guidelines were prioritised from the over 5000 diseases in the Orphanet database following an investigation into the needs and experience of emergency room professionals. Orphanet plans to create some 30 rare disease emergency care guidelines per year and is grateful to Alexion Europe for its collaboration on the translation of the first set, which were validated in painstaking detail by the Orphanet country teams. The emergency guidelines are available from the Orphanet homepage for each language.
The United Kingdom’s National Institute for Health and Clinical Excellence (NICE) has launched a consultation process for a new scheme that would permit patients with rare or uncommon disorders to access innovative treatments that have not yet been subject to appraisal by NICE. The NICE “Innovation Pass” will make selected innovative medicines available on the National Health Service “for a time-limited period” prior to receiving a NICE appraisal. Funding “will be drawn from a new ring-fenced £25 million” (€27.6 million) budget. The Innovative Pass allows patients earlier access to innovative medicinal products while simultaneously facilitating the gathering of further evidence to “support a subsequent NICE appraisal”. The 
