Developing new therapies for Batten Disease

BATCure

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The Project

Challenge being addressed

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 1400 new cases each year. It is a devastating and severely debilitating group of genetic diseases. 

Although the disease was initially recognised in 1903 by Dr. Frederik Batten, it was not until 1995 that the first genes causing Batten disease were identified. Since then, over 400 mutations in 13 different genes have been described that cause the various forms of Batten Disease.

There are no curative treatments yet offered in the clinic for any type of NCL anywhere in the world. Families affected by all types of NCL are found throughout Europe, with the exact distribution of genetic sub-types varying from country to country. The incidence of CLN3 disease is highest in northern European countries: at 0.47 per 100,000 live births in the UK, 0.25 in Germany, and as high as 7 in Iceland.

Exact figures for the rarest genetic types are not known, but the incidence of CLN6 or CLN7 disease mutations, the next most common transmembrane types, is highest in southern and Mediterranean Europe. There are 200 affected individuals with CLN6 or CLN7 disease reported in the NCL mutation database, and in the recently completed EU DEM-CHILD project, more than 60% of undiagnosed patients from Europe as well as India were revealed to be affected by CLN6 and CLN7 disease.

Objectives

The goal of BATCure is to develop the first effective treatment for patients living with a group of rare lysosomal diseases known as the neuronal ceroid lipofuscinoses (NCL) or Batten disease. BATCure will provide a concerted, focused and synergistic action by experts committed to work together towards this common goal.

Thus, 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
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, peripheral nervous system, 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 all stakeholders for clinical trials

Key figures about the project

• Start date: 01/01/2016
• Duration: 36 months
• EU contribution: € 5,995,768.75
• Call reference: H2020-PHC-2015-two-stage, New therapies for rare diseases, Grant agreement no 666918