One of the main aims of Euro-ataxia is to accelerate research and treatments for people with ataxia. This coordinated effort between our member organisations supports research in a number of ways, such as providing patient input and advice to research studies and assisting in the recruitment of participants to trials.
Euro-ataxia Patient Charter
Euro-ataxia believes that all ataxia clinical studies should involve the input of people affected by ataxia (patients and their parents or carers) and patient group representatives. Our Patient Charter outlines our vision for this, why it is important and proposes how it should be implemented.
Euro-ataxia Annual Research Conference 2021
The virtual Euro-ataxia annual conference 2021 took place on Friday 18th June 2021 for the ataxia research meeting and Saturday 19th June 2021 was a Euro-ataxia Members only meeting. Please find below the programme of the research meeting and the available presentation slides:
Friday 18th June 2021 - Ataxia research meeting
1.Welcome, Cathalijne van Doorne (Euro-ataxia President and ADCA Vereniging representative)
2.Results from European spinocerebellar ataxia type 3/MJD Initiative (ESMI) and new SCA research plans, Thomas Klockgether (Bonn University). Presentation available here.
3.Development of an AAV-based miQURE gene therapy for SCA3, Lodewijk Toonen (Uniqure). Presentation available here.
4.Development of therapeutics to prevent onset and/or progression in Repeat Expansion Disorders, Irina Antonijevic (Triplet therapeutics). Presentation available here.
5.TREAT-ARCA – New EU funded Consortium on Recessive cerebellar ataxias, Bernard Brais (Universite’ McGill). Presentation available here.
6.Ataxia Global Initiative and Critical path for ataxia therapeutics Consortium, Holm Graessner (University of Tubingen). Presentation available here.
7.European Friedreich’s ataxia Consortium for Translational Studies (EFACTS) update, Jorg Schultz (Uniklinik RWTH, Aachen).
8.Update on omavoloxolone study in FA, Colleen Stoyas, PhD (Medical Science Liaison Reata Pharmaceuticals Inc.). Presentation available here.
9.Update on FA clinical programme, Marc Martinell (Minoryx).
10.Close of meeting
Current Research Projects
Progression chart of spastic ataxias project (PROSPAX)
The PROSPAX project, which launched in June 2020, is a collaborative effort between neurologists across Europe, plus Canada. The project aims to study the progression of spastic ataxias over time, in a rigorous and harmonised way - from the clinical to the molecular level, including brain imaging, markers of progression and animal models. The project will initially focus on ARSACS and SPG7, but will establish a more general research framework that will be applicable to other spastic ataxias over time. Euro-ataxia will be involved in the project as an active partner representing European ataxia patients, with support from Ataxia UK and the German ataxia group DHAG. There is a very active patient organisation group who is leading a work package, working on creating a patient reported outcome measure, by creating surveys and distributing among patient groups, to collect helpful information to be used in this study and for future trials.
The European Friedreich’s ataxia Consortium for Translational Studies (EFACTS)
This is a study originally funded by the European Commission and that will gather vital information about the progression of Friedreich’s ataxia (FA) which can be delivered to patients to give them a better knowledge of their prognosis and the development of their condition. The purpose is to generate a large FA patient database, alongside an integrated clinical and natural history database; this will be linked to a biological samples repository. It also aims to define a panel of clinical assessment tools for use in future trials. There are two Euro-ataxia representatives on the Steering Committee for this project. It is currently supported by grants from Euro-ataxia member groups and pharmaceutical companies.
Cerebellum and Emotional Networks (CEN)
A Marie Skłodowska-Curie Innovative Training Network funded by the European Research Council investigating the brain circuits that underlie emotional behaviour. The project will create a Virtual Institute of 7 European universities and 7 industry/charity partners, including Euro-ataxia. The training network focuses on the role of a previously overlooked part of the brain, the cerebellum, and its involvement in the control of emotions. The new consortium, called CEN (cerebellum & emotional networks), brings together researchers from across Europe and will address the contribution of the cerebellum in the control of emotions, and in particular fear and anxiety. A central aim of CEN is to share and combine knowledge in the field of cerebellar research and in the field of anxiety disorders. The knowledge gained will inform the development of new therapeutic strategies for individuals suffering from emotional disorders. Read the full press release from CEN about the project here.
Designing a toolbox of paradigmatic treatments for a targeted molecular medicine approach to autosomal recessive ataxias (TREAT-ARCA)
The TREAT-ARCA project, which began in June 2021, is a preclinical research project focused on two rare ataxias: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and COQ8A-ataxia (also known as Autosomal Recessive Cerebellar Ataxia type 2 ARCA2). This 3-year project received funding from the EU’s Horizon 2020 research and innovation programme. It aims to design and test treatments, including gene therapy in animal model systems of ARSACS and ARCA2. It also aims to develop biomarkers. German patient group DHAG, Euro-ataxia, and the Ataxia Charlevoix-Saguenay Foundation are representing patients on this project. See this article for a summary of the TREAT-ARCA project.
Spinocerebellar ataxias: Advanced imaging with ultra-high field MRI (SCAIFIELD)
This new project involves a European Consortium who are developing novel brain scanning biomarkers for spinocerebellar ataxias, using high-field MRI scanning technology. This project is a collaboration between researchers in Germany, Norway and Belgium and includes people with SCA1, SCA2, SCA3 and SCA6 with a focus on the most common (SCA3) and fastest progressing (SCA1). Both, symptomatic and pre-symptomatic subjects will be included. Euro-ataxia is representing patients on this project.
Ataxia Global Initiatives (AGI)
The Ataxia Global Initiative (AGI) is a worldwide research platform that has the goal to facilitate the clinical development of therapies for ataxias. The AGI aims to create a network of ataxia clinicians with expertise in the ataxias, to work together and share information on a global scale. It is of particular importance for the rare ataxias where there may be few people in each country, therefore global collaboration is essential for trials. A Steering Committee has been set up, consisting of ataxia specialist clinicians, with representation from Europe, North America, South America, Australia and Asia. Ataxia UK’s Head of Research, Julie Greenfield, is on the Steering Committee representing Ataxia UK and Euro-ataxia, whilst Sue Hagan (from the National Ataxia Foundation - NAF) is the other patient group representative.
The next AGI Conference will be taking place in Dallas, US on 4-5 November 2022. Further information may be found at http://ataxia-global-initiatives.net/
Completed Research Projects
European SCA3/Machado Joseph disease initiative (ESMI)
The ESMI consortium has successfully established the largest cohort of systematically characterised patients with SCA3 worldwide. The cohort consists of around 270 SCA3 mutation carriers (with the majority being people with SCA3 and a small proportion of pre-symptomatic individuals) and nearly 100 age-matched healthy control subjects. This is an extremely useful resource for running trials in Europe. The researchers defined standardised quality-controlled protocols for clinical assessments, brain imaging and collection of body fluids (blood and cerebrospinal fluid) that now form the basis for a worldwide consensus in the framework of the SCA Global initiative. A fully summary of the project can be viewed here.
Preparing for therapies in autosomal recessive ataxias
This project involves seven centres across Europe and one in Canada. The aim is to develop a large registry of autosomal recessive cerebellar ataxia patients to identify any 'markers' which can indicate whether clinical trials are effective. In addition, it will also help to identify novel mutations or genes which cause recessive cerebellar ataxias, aiding future diagnoses. Lastly, the team (based at the University of Tubingen, Germany) will be focusing on ataxia with Coenzyme Q10 deficiency and ARSACS to test potential drugs in animal models. This multi-faceted, transcontinental trial is expected to produce some very interesting information that can be used to shape future human trials.
- International Ataxia Research Conference 2019
- Euro-ataxia Annual Conference 2019
- Euro-ataxia Annual Conference 2018
- International Ataxia Research Conference 2017
- Euro-ataxia Annual Conference 2016
ATAXIE - ADCA - SCA: Blog run by Euro-ataxia President Cathalijne van Doorne. Aims to keep people informed about new developments in the field of research into autosomal dominant cerebellar ataxia (ADCA), spinocerebellar (SCA) and other ataxias. Also reports on activities that raise awareness of these rare disorders in European Parliament
Friedreich Ataxia Scientific News: Blog run by Euro-ataxia board member Juan Carlos Baiges. Provides news and information about Friedreich's Ataxia and other topics related to rare diseases.
SCA Source: A website where research on SCAs and related ataxias is written in plain language by SCA scientists. Aims to make research more readily accessible and understandable to ataxia patients and families.
For more information on the latest ataxia research, take a look at our member pages and you can also look at our list of suggested websites including other ataxia charities and other useful resources.
If you are a researcher from academia or industry and you are interested in contacting us to find out more about how we could help you, please email firstname.lastname@example.org
ETRAVIRINE position statement
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