A group of scientists working on chorea-acanthocytosis has again applied to obtain funding under a call for European rare disease research projects (E-Rare JTC 2017).

Abbreviated as “EMINA-3”, a consortium led by Andreas Hermann, Dresden, attempts to continue the successful work of the group of laboratories known as “European Multidisciplinary Initiative on Neuroacanthocytosis.” Now, discovery of agents for causal treatment is the immediate aim, as no curative treatment is available for ChAc.

The initial EMINA consortium under the E-Rare funding cycle of 2009 was led by Adrian Danek and focussed on improved clinical characterization, patient cohort building and biosample gathering (www.erare.eu/financed-projects/emina). It was thoroughly supported by the Advocacy for Neuroacanthocytosis Patients as was the second phase, EMINA-2. This was constituted in 2012 by the current lead applicant. It shifted the research focus on understanding the basic mechanisms in ChAc, including the development of various model systems in laboratory animals and in patient-derived cell cultures (www.erare.eu/financed-projects/emina-2).

For the current application, the consortium's composition had to be rearranged to reflect altered funding conditions and to incorporate newly active laboratories. The EMINA-3 partners come from Germany (Hermann, Wegner), Austria (Mairhofer), Greece (Stournaras), Poland (Zoladek), Italy (De Franceschi) and Japan (Sano) and will be supported in their goals by the established wider circle of labs, the “Friends of EMINA”.

Again, the Advocacy will give input and support, e.g. to obtain and ship biomaterials such as blood or skin cells from patients to laboratories, including brain tissue from those that unfortunately died with ChAc.

EMINA-3 aims to validate EMINA-2 findings by analyzing yeast, fruit-fly, mouse and human cell models. It will evaluate drugs, the potentially neuroprotective properties of which were uncovered through EMINA-2 research or that will be discovered through high-throughput screening. The aim is preparation for possible application of such drugs in patients.

For this, re-vitalization of the patient registry will be of particular importance and the next logical step. Currently, the patient registry (www.euro-hd.net/html/na/registry) is underfunded but in combination with free diagnostic testing (chorein Western blot, performed in Munich: https://www.euro-hd.net/edit/na/network/docs) it will be essential for eventually bringing the findings from basic science to those affected by ChAc.

By the end of April 2017, the EMINA-3 applicants ought to hear about the results of the first level of evaluation and whether they will be allowed to submit a full proposal. If received, research funding is expected to commence by early 2018.