Neuronal ceroid lipofuscinoses (NCL), commonly known as Batten disease, is the most common of the rare neurodegenerative disorders of children, affecting approximately 14,000 world-wide, with around 1,400 new cases each year. It is a devastating and severely debilitating group of genetic diseases. There are no curative treatments yet offered in the clinic for any type of NCL anywhere in the world.
Batten disease mainly affects children, who experience symptoms including progressive dementia, motor decline, visual failure, challenging behaviour and epilepsy. The disease course leads to a long period of complete dependence on families and carers for all their needs, eventually leading to premature death. Existing palliative treatment might reduce some symptoms, but cannot eliminate the burden of seizures and the progressively worsening effects on the whole body due to decreasing CNS influence and control.
This project will focus on developing treatments for three distinct diseases that account for more than half of all diagnosed cases of Batten disease, directly affecting the lives of thousands of living children and young adults, for which no therapy is currently available.
By the end of the project, BATCure expects to have:
- At least one lead therapy ready for phase 1/2 clinical trial
- Developed faster diagnostics suitable for pre-symptomatic testing and monitoring efficacy of these new treatments
- A wider understanding of the disease and better knowledge and evidence for palliatively treating peripheral symptoms