BATCure A CONSORTIUM MADE POSSIBLE BY VISION2020

BIG AIMS FOR BATCure

By 2019, BATCure will aim to: ⑤  Identify new and repurpose existing small molecule therapies ① Create new models, tools and technologies for developing and testing Batten disease therapies ⑥  Test new compound treatments in zebrafish, a high- throughput small vertebrate model ②  Further understand disease biology and gene function to identify new therapeutic target pathways ⑦  Deliver and monitor new treatments using mouse models

③  Identify biochemical therapeutic target pathways to allow effective evaluation of preclinical therapies and ⑧  Provide a novel mechanism to involve patients and their improve diagnostics families, allow them to contribute to therapy development and prepare all stakeholders for clinical trials

④  Extend a comprehensive natural history beyond the brain to include cardiology, as well as spinal cord, parasympathetic nervous system, psychiatric and metabolic changes

1 A VISION2020 PERSPECTIVE Establishing this connection with LEITAT to share expertise definitely enabled Sara to tackle the demanding second stage of the submission process. Vision2020 is a platform through which research organisations and companies with funding from the EU SM: Michael introduced me to Izabel from LEITAT and Horizon 2020 programme can connect. The platform helps we began working together in February 2015, with Izabel to maximise the value of the Horizon 2020 funding by providing all the administrative support that I needed enabling a wealth of collaborations. for submission. In addition, I also invited LEITAT to participate as they had the expertise needed for a Here, Dr Sara Mole, Michael Browne of the University section of the planned work. Together, we were able to College London (UCL) European Research and Innovation submit the application in April 2015. Office and Dr Izabel Alfany of technological centre LEITAT in Spain, discuss how Vision2020 kickstarted the important IA: We at LEITAT acted as EU project experts for work of BATCure: BATCure. Besides the administrative issues, I was responsible for reviewing the content and suggested SM: Once the result of the first stage of applications was improvements to the BATCure proposal, in order to announced, and we knew that BATCure had so far been fulfil EU expectations and secure a better evaluation. successful, preparations began for the full application. I was working with Michael from the UCL European SM: The group we have put together is great! There Research and Innovation Office, but he did not have have been no language barriers so far, as all parties capacity to support me for the second stage. speak English. Half of the participants were new to Batten disease and so did not know the other partners. MB: It really was through Vision2020 that colleagues from Therefore, we will need to meet regularly to develop LEITAT and I met and were able to explore options on how a good working relationship, and to share our results our institutions could work together on this type of project. and allow discussion to give rise to new ideas. We are Applying for Horizon 2020 funding involves a significant now independent of Vision2020, and these plans are an amount of work for researchers, with low success rates. intrinsic part of the BATCure Research Consortium itself.

ACROSS EUROPE, over 1,000 individuals – predominantly to prevent or slow down neuronal death; and treat the rest children – are affected by a debilitating rare disorder known of the body to prevent or slow down peripheral symptoms,” as Batten disease. More precisely termed neuronal ceroid explains Mole. lipofuscinoses (NCLs), Batten disease encompasses a group of rare inherited disorders that can result in symptoms that The three forms of Batten disease the Consortium will include epilepsy, loss of vision and difficulty with cognition, study – CLN3, CLN6 and CLN7 – relate to different genetic walking and talking. abnormalities inherited by the patients that result in the symptoms experienced. Juvenile CLN3 is the most Despite the devastating of this disease, there are prevalent form of the disease worldwide and in North currently no preventive or curative treatments on the market. Europe, while CLN6 and CLN7 are found more in South and Palliative therapy can reduce seizures but, eventually, Batten Mediterranean Europe. disease leads to premature death. LOOKING FORWARD Through the support of the EU Horizon 2020 funding Crucially, Mole and her colleagues were successful in their mechanism and significant networking under the auspices application for a grant of €6 million from the ‘New therapies of the Vision2020 platform, a new team of researchers aims for rare diseases’ Horizon 2020 fund. BATCure can now move to provide an effective solution. The BATCure Research forward with Mole at the helm. Consortium sprang from the ideas of Dr Sara Mole of University College London (UCL), UK, in early 2014. The team has a lot of work ahead of it, but the kickoff meeting in January 2016 signals the start of what will NEW TREATMENTS undoubtedly be an impressive and important body The main goal of the BATCure Research Consortium is to of research. better understand Batten disease and develop new gene- based or drug-based treatments for three types of NCLs. Meaningfully, the team also has communication with Helping to reach this objective is an expert group of scientists, patients and their families built into its research clinicians and SMEs from across Europe. There is even programme. This will allow the BATCure Research involvement from a patient organisation. Consortium to translate its results directly for those to whom it matters most. “We hope to develop gene therapies to treat the eyes that will prevent or slow down the loss of vision; treat the brain

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