Research Overview

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.

EMA approves Skyclarys® for the treatment of FA in those aged 16 and over in EU countries 

On 12th February 2024, the European Medicines Agency (EMA) announced that they have approved the drug Skyclarys (Omaveloxolone) for the treatment of Friedreich's ataxias in those aged 16 and over in EU countries.

This approval by the EMA will not result in approval in the UK, as an application still needs to be submitted to the UK regulators (the MHRA). We believe that approval in the EU will pave the way for faster approval in the UK. From January 1st 2024, the new fast-track route for approval of drugs in the UK (including Northern Ireland) was launched.

This is called the International Recognition Procedure and will be a fast-track for drugs that have already been approved in other countries (including by the FDA in the US and EMA in Europe). There are two routes, taking either 60 days or 110 days.

There are various criteria in order to determine which route will be taken. It is important to note that if the drug gets approved it then needs to be assessed for cost effectiveness by NICE to see whether it will be funded by the NHS.

Ataxia UK's Head of Research, Julie Greenfield, says "We are making every effort to encourage and support Biogen in seeking UK regulatory approval. In addition, we are discussing ways to cooperate to gather useful information from people with FA in the UK. This information is needed to help people get access to the drug if it is approved".

Read the press release from Biogen here.

International Ataxia Research Congress (ICAR) 2024

Ataxia UK, National Ataxia Foundation (NAF), Friedreich’s Ataxia Research Alliance (FARA), and Ataxia Global Initiative (AGI) are pleased to announce the date for the next International Congress for Ataxia Research (ICAR). ICAR 2024 will take place at the Leonardo Royal Hotel London Tower Bridge in London, UK. Please save the date for November 12-15, 2024.

ICAR 2024 will be the place to share the latest ataxia research, including updates on Friedreich's ataxia, SCAs 1, 2, 3, 6, 7, and more. Attendees will hear the latest developments in novel treatment approaches, clinical trial results, and scientific debates from leading ataxia researchers. There will also be plenty of opportunities to network with academic and industry leaders, with a program for junior/trainee researchers organized by a Trainee Organising Committee.

ICAR 2024 will include plenary sessions, parallel sessions, workshops, and poster sessions. Plenary sessions will feature one invited speaker and talks selected from submitted abstracts. Following the success of ICAR 2022, a panel discussion will be held with individuals affected by Ataxia and an interactive debate session. For a full list of session topics and workshops visit: ataxiacongress.org.

Abstract submission and registration is now open! To read more, click here.

Euro-ataxia Annual Research Conference 2023

The 2023 Euro-ataxia research conference took place on 20th-21st of May 2023, in Greece. This conference was a great opportunity for patient groups to network and hear about recent updates in ataxia research. Please find below the programme of the research meeting and the available presentation slides:

  1. Professor Marios Hadjivassiliou - 'Overview of inherited and non-inherited ataxias - advances in diagnosis and treatment'
  2. Dr Jörg Schulz - 'The importance of natural history and biomarker studies in the ataxias - using data from the European Friedreich's ataxia study (EFACTS) - Click for slides
  3. Dr Myriam Rai - 'The FA Pipeline' - Click for slides
  4. Dr Barbara Borroni - 'The potential value of transcranial stimulation for symptom relief in ataxias'
  5. Professor Paola Giunti - 'Biomarkers in the SCAs'
  6. Dr Helene Puccio - 'Using animal and cell models to test treatments for ataxias - update on TREAT-ARCA project'
  7. Dr Claire Ewencyzk - 'End of life discussions with patients affected by neurogenetic diseases and their caregivers: DIRAGENE study'
  8. Professor Anja Lowit - 'Management of the ataxia - speech therapy' - Click for slides
  9. Mariana Kotzamanidou - 'Aqua-therapy for ataxias - perspective from Greece' - Click for slides
  10. Updates from pharmaceutical companies with ataxia clinical programmes:
  11. Flash talks (5 mins each)
    • Dr Rosella Abeti - 'Bench to bed: A story of a novel compound'
    • Dr Ana Claro - 'Nanobodies to combat Machado Joseph Disease'
    • Enzo Nio - 'Cerebellar ataxia and fear extinction'
    • Dr Celeste Suart - 'Exploring DNA damage and repair in SCA1'

This project has received funding from the European Union’s Horizon 2020 research and innovation programme under the EJP RDCOFUND-EJP N° 825575.

We are very grateful to the sponsors of this event:

 

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 is 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. In July 2022, TREAT-ARCA and PROSPAX held a joint annual meeting. See this article for a summary of the joint meeting.

The PROSPAX Consortium has recently published an infographic on their natural history study of individuals with ARSACS and SPG-7 in European countries. You can read the infographic here.

They have also recently released an article on their SPAX home monitoring app for ARSACS and SPG-7. The article is an interview with Netherlands-based PhD researcher Ilse Willemse, who talks about the development of the app and its purpose. You can read the interview here.

The PROSPAX team would like to thank everyone who completed their two surveys on the symptoms experienced by people with ataxia and/or hereditary spastic paraplegia (HSP). There were an amazing number of responses for both surveys, with 1125 responses for Survey 1 and 817 responses for Survey 2! The team have produced a poster about the surveys here. Read more about the project on the PROSPAX website.

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 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.

Spinocerebellar ataxias: Advanced imaging with ultra-high field MRI (SCAIFIELD)

This 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. Read more on the SCAIFIELD website.

SIMPATHIC Consortium

The SIMPATHIC Consortium, led by the Dutch Radboud University Medical Center and Amsterdam University Medical Centers, has developed a new approach to expedite the use of existing drugs for groups of patients with rare neurological disorders. The consortium has been awarded an 8.8 million euros grant from the Horizon Europe program to further develop this innovative method. The researchers will use a new technology to test the efficacy of existing drugs in patients with neurological disorders, requiring only a tube of blood or a small piece of skin from the patient. These materials contain stem cells that the researchers culture into nerve cells. They subsequently test how they respond to a variety of existing drugs. Euro-ataxia one of the patient groups representing people with neurological conditions on this project, and SCA3 is one of the neurological conditions which will be studied. Read more in this press release.

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 full summary of the project can be viewed here. Funding from the EU Joint Programme for Neurodegenerative Disease Research has now ended but the project is continuing with support from pharmaceutical partners.

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 latest AGI Conference will took place in Dallas, US on 4-5 November 2022. Further information may be found at http://ataxia-global-initiatives.net/

 

Completed Research Projects

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.

Research Updates

Research Blogs

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.

 

More Information

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 research@ataxia.org.uk

 

Policy

ETRAVIRINE position statement

Read our position statement on ETRAVIRINE here: