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.

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.

Ataxia patient organisations united at the 2024 Euro-ataxia annual conference

Euro-ataxia, is the federation of 22 European ataxia patient organisations. The 2024 Euro-ataxia conference took place in London on 15th-16th November, organised by Ataxia UK. The conference was a great success; fourteen ataxia patient groups, as well as researchers and pharmaceutical representatives gathered to share best practice in healthcare and research.  Read a summary of the conference here, or view the presentations below.

Friday:

Flash talks from junior researchers attending ICAR (Chairs: Thiago Rezende and Magda Santana)

-Louisa Selvadurai "Further Development and Validation of the Cerebellar Neuropsychiatric Rating Scale (CNRS)©"

-Mónica Ferreira “Brain changes over time in SCA3: Their role in treatment and therapy development”

-Amy Hulme “Investigating the mechanosensory neurons in Friedreich’s ataxia using stem cell models”

-Daiana Machado “Diagnosis journey of Brazilian Friedreich's Ataxia patients”

-Uffaf Khan “Pleozymes: a novel, pleiotropic nanozyme for targeting metabolic deficits in ataxias”

Updates on recent clinical trials:

Session Chair: Julie Greenfield (Ataxia UK)

Vatiquinone trial in Friedreich's ataxia Troriluzole programme for Spinocerebellar ataxias - Prof Alexandra Durr and Ms Elodie Petit (Sorbonne University Paris, France)

Dr Melissa Beiner (Biohaven Pharmaceuticals)

Current challenges in ataxia trials and drug regulatory approvals

The challenges of assessing ataxia progression, and consequences for clinical trials and regulatory approvals - Dr Christian Rummey (Clinical data science GmbH

Where is ataxia research headed and highlights from ICAR 2024 - Prof Massimo Pandolfo (McGill University, Canada)

The value of Specialist Ataxia Centres - Prof Paola Giunti (London Ataxia Centre UCL/UCLH

Advances in gene therapy Dr Luis Pereira Almeida (University of Coimbra, Portugal)

Saturday:

Patient Group presentations (new projects and sharing best practice)

-Mary Hogan, SCA27B Ataxia Foundation
-Sue Millman, Ataxia UK
-John Gerbild, Denmark Association for Ataxia and HSP
-Lauren Moore, National Ataxia Foundation
-Susie Norbury, AT Society
-Arsho Rad, Ataxia Foundation - Sweden

FA Global Clinical Consortium - Myriam Rai, FARA

Brain Mouv’: A new physiotherapy app for people with ataxia - Iris Marolleau, Neurologie’K, France

Living with Inherited Ataxias: Illness perceptions, illness uncertainty, coping and psychological adjustment

Session Chair: Andreas Nadke

Mary Kearney, Research Fellow at the National Ataxia Programme, Tallaght
University Hospital

Patient Advocate Involvement in ERN-RND - John Gerbild, Denmark Association for Ataxia and HSP

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.

In February 2024, the PROSPAX Consortium published an infographic on their natural history study of individuals with ARSACS and SPG-7 in European countries. You can read the infographic 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.

Read a summary of the PROSPAX 4-year report here.

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.

• See this article for a summary of the TREAT-ARCA project.
• In July 2022, TREAT-ARCA and PROSPAX held a joint annual meeting. See this article for a summary of the joint meeting.
• In November 2022, researchers from the TREAT-ARCA project attended the International Congress for Ataxia Research (ICAR) and Ataxia Global Initiatives (AGI) conferences. See this article for a summary of the conferences.
• In May 2023, Dr Hélène Puccio gave an update on the TREAT-ARCA project at the Euro-ataxia research conference. See this article for a summary of the update given by Dr Puccio.
• In September 2023, Dr Federica Pilotto delivered an educational webinar on gene therapy, aimed at people with any type of genetic ataxia. This was the first in a series of educational webinars to engage people with ataxia with the TREAT-ARCA project. See this article for a summary and a recording of the presentation. 

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.