The first challenge is to raise public awareness of this rare disease (this is one of the major aims of the EU-NN).
Although it is established that narcolepsy with cataplexy is caused by hypocretin deficiency, the cause of hypocretin deficiency remains unknown. Since narcolepsy with cataplexy shows the strongest association with a specific HLA haplotype, an auto-immune attack resulting in the destruction of hypocretin neurons seems highly plausible. Nevertheless, future work should indicate the mechanism of this neuronal destruction, as well as the role of HLA.
Narcolepsy with cataplexy has both genetic and environmental factors involved. Only few genetic susceptibility elements have been discovered so far. Large studies are needed to gain insight into the genetic background predisposing to narcolepsy. Also, rare cases of narcolepsy occur in a familial context. So far a single gene (MOG) has been identified with a mutation in a Spanish family. Identification and genetic analysis of families might reveal other mutations and indicate the abnormal pathway. A major and complex task will be to identify the environmental factors that cause narcolepsy in predisposed subjects.
Finally, new treatments are needed.