Insight CLN5: Approaching therapies in the neuronal ceroid lipofuscinosis, using Zebrafish as a Tool

The neuronal ceroid lipofuscinoses (NCLs) are orphan, rapidly fatal diseases in children and adults with no cure. This proposal intends to raise hopes to investigate disease features and potential therapies in CLN5 disease, an ultrarare, severe NCL form leading to intractable epilepsy, cognitive impairment, and early death. We will use zebrafish a simple cost-effective model, to assess the efficacy of new therapeutic molecules before scaling up to more expensive mammalian systems. Novel compounds that may possibly target the molecular pathophysiology of this disease will hopefully become a powerful tools to overcome the lack of the effective therapeutic approaches in CLN5 as in other NCL. Generation of a new disease tool will complement existing models and will offer the opportunity to accelerate drug discovery to halt or delay neurodegeneration. The overall goal is to offer new therapeutic opportunities to improve survival, epileptic manifestations, and cognitive symptoms, and promoting better quality of life, in children with NCL while they expect for the long-awaited genetic therapy to be carried out.