Researchers networking for rare diseases
The 'European network for research on alternating hemiplegia in childhood for promoting SMEs integration' (ENRAH-SME) project engaged clinical centres with expertise in rare paediatric diseases of a neurological nature. The project's AHC research network realised many successes, including its primary goal of promoting the participation of small and medium-sized enterprises (SMEs) in European Commission Framework Programmes in the area of rare diseases. An online secured database was set up that contains the cases of 157 patients from 8 EU countries. The records include general information for categorising, detailed longitudinal clinical information, where available, results of mutation analysis (where applicable), and links to bio-data. The registry was organised to include all ages of patients with possible AHC diagnosis as well as a number of adults aged up to 51. An IT product malfunction during the term of the project prevented partners from commencing analyses. ENRAH-SME activities discovered, in relation to the registry average and as a proportion of the country's inhabitants, there were higher numbers of identified AHC cases in the Czech Republic, France and Italy. This was attributed to these countries' well-established system for AHC diagnosis and to the long history of AHC patient advocacy and the involvement of patient organisations (Association Française de l'Hémiplégie Alternante (AFHA) and Associazione Italiana per la Sindrome di Emiplegia Alternante (AISEA)). These organisations were also project partners. Integrating SMEs in such efforts will stimulate and strengthen collaboration between them and researchers as well as ensure optimal translation of basic research into economic benefits for SMEs. This also has positive implications for public health: improvements in clinical research will follow a natural path towards development of an orphan medicinal product. On the whole, advances made by the ENRAH-SME initiative will contribute to greater awareness of rare diseases such as AHC, hopefully resulting in increased research attention, earlier diagnosis, and ultimately, better disease management and treatment.
