Objective
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 > 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. We 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.
To develop new therapies for these 3 types of Batten disease, BATCure will:
1. Create new models, tools and technologies for developing and testing therapies
2. Further delineate disease biology and gene function to identify new therapeutic target pathways utilising yeast and pluripotent stem cell models
3. Identify biochemical therapeutic target pathways, facilitate effective evaluation of preclinical therapies and improve diagnostics
4. Extend a comprehensive natural history beyond the brain to include cardiology, the spinal cord, PNS, psychiatric and metabolic changes
5. Identify new and repurpose existing small molecule therapy
6. Triage new compound treatments in zebrafish, a high-throughput small vertebrate model
7. Deliver and monitor new treatments using mouse models
8. Provide a novel mechanism to involve patients and their families to inform and fully contribute to therapy development and prepare for clinical trials
Fields of science
- medical and health sciencesbasic medicinepharmacology and pharmacydrug discovery
- medical and health sciencesbasic medicineneurologyepilepsy
- medical and health sciencesmedical biotechnologygenetic engineeringgene therapy
- medical and health sciencesmedical biotechnologycells technologiesstem cells
- medical and health sciencesbasic medicineneurologydementia
Programme(s)
Funding Scheme
RIA - Research and Innovation action
Coordinator
WC1E 6BT London
United Kingdom
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Participants (13)
SE-90187 Umeå
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The organization defined itself as SME (small and medium-sized enterprise) at the time the Grant Agreement was signed.
LV-1006 Riga
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CF24 0DE Cardiff
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00185 Roma
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20251 Hamburg
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17177 Stockholm
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The organization defined itself as SME (small and medium-sized enterprise) at the time the Grant Agreement was signed.
M15 6BH Manchester
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NW1 OTU London
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37008 Salamanca
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2200 Kobenhavn
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The organization defined itself as SME (small and medium-sized enterprise) at the time the Grant Agreement was signed.
WC2R 2LS London
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08225 Terrassa
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GU14 6SF Farnborough
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