Developing New Therapies for Batten Disease

BATCure

http://www.batcure.eu

Acronym: BATcure
Funded under: H2020-EU.3.1 – SOCIETAL CHALLENGES – Health, demographic change and well-being, Research and innovation action
Call reference: H2020-PHC-2015-two-stage, New therapies for rare diseases
Contract number:  666918
Implementation period:  01.01.2016 31.12.2018
Project coordinator: University College London, United Kingdom
Project partners:

AcureOmics AB, Sweden
Latvian Institute of Organic Synthesis, Latvia
Cardiff University, United Kingdom
Fondazione Telethon, Italy
Medical Center Hamburg-Eppendorf, Germany
Pronexus Analytical AB, Sweden
The Manchester Metropolitan University,  United Kingdom
The Royal Veterinary College, United Kingdom
University of Salamanca, Spain
Orphazyme APS, Denmark
King’s College  London, United Kingdom
Acondicionamiento Tarrasense Associacion, Spain
Batten Diseases Family Association, United Kingdom

Leader of Latvian team: Professor Maija Dambrova
Total Costs: 6 000 681,25 EUR
EU contribution: 5 995 768, 75 EUR
Costs for Latvian partner:  399 625 EUR

Summary
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. 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.

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.