Project Goals
The Goal
The goal of BATCure is to advance the development of new therapeutic options for a group of rare lysosomal diseases - neuronal ceroid lipofuscinoses (NCL) or Batten disease. There are more than a thousand affected across Europe, with a combined incidence of c.1:100,000. The NCLs are devastating and debilitating genetic disorders that mainly affect children, who suffer progressive dementia and motor decline, visual failure and epilepsy, leading to a long period of complete dependence on others, and eventually a premature death. Existing palliative treatment can reduce, but does not eliminate, the burden of seizures and the progressively worsening effects on the whole body due to decreasing CNS influence and control. There are no curative treatments in the clinic for any type of NCL.
BATCure will follow a novel integrated strategy to identify specific gene and small molecule treatments for three genetic types of Batten disease that include the most prevalent world-wide, juvenile CLN3 disease, and in southern and Mediterranean Europe, CLN6 and CLN7 diseases.
The Impact
BATCure will not only develop new and improved therapeutic approaches for three types of Batten disease, focusing on genes and drugs, but will also repurpose existing therapies. To facilitate these objectives and for preclinical testing, new cell and animal models, including stably engineered zebrafish models, new yeast models, iPSC/ES derived neuronal cells and multi-cell type, self-organising CNS organoids, will be developed and novel sites of pathology to be targeted will be identified.
BATCure will extend knowledge of the natural history; provide access to harmonised data and patient samples supported by a Europe-led international patient Registry; contribute to improved methods of diagnosis, monitoring of therapeutic efficacy, and molecular and clinical disease characterization; and develop diagnostic tests in a clinical setting that can be used to screen pre-symptomatically.
