One of the main aims of Euro-ataxia is to accelerate research and treatments for people with ataxia. This co-ordinated 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 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.
Current Research Projects:
Progression chart of spastic ataxias (PROSPAX) project: The PROSPAX project, which launches in June 2020, is a novel collaborative effort between neurologists across Europe, including the UK and 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.
Euro-ataxia is also partnered with three European network projects on the ataxias. These projects have been awarded funding by the European Commission and Euroataxia is playing an active role to ensure their success:
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 in 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 which can be used to shape future human 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.
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.
Ataxia Global Initiatives
The SCA (spinocerebellar ataxias) global initiative, launched in 2019 by ataxia specialist Prof Klockgether, aims to create a network of ataxia clinicians with expertise in the spinocerebellar ataxias, to work together and share information on a global scale. This includes all ataxias that are inherited in a dominant way, not just the common SCAs (e.g.: SCA1, 2, 3, 6 and 7), but also the rarer SCAs and conditions such as DRPLA. 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 SCA global Steering Committee was 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, was invited onto the Steering Committee representing Ataxia UK and Euro-ataxia, whilst Sue Hagan (from the National Ataxia Foundation - NAF) was the other patient group representative.
Similarly, the ARCA global initiative has been set up for the recessively inherited ataxias (e.g.: ARSACS, AOA1, AOA2, SPG7 etc.). This was launched in March 2020 by ataxia specialist neurologist, Prof Synofzik (from Tubingen). Julie Greenfield is also on this Steering Committee and we will report more as the project develops.
SCA and ARCA global has organised a joint conference to bring researchers together. This will be taking place online from 19-21 October 2020.
Further information may be found at http://ataxia-global-initiatives.net/
- 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
- International Ataxia Research Conference 2015
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
Read our position statement on ETRAVIRINE here: