Ataxia UK actively monitors the ataxia treatment landscape.

The charity’s research staff keep updated with developments in the field by monitoring the literature, attending conferences and having close contact with ataxia researchers. We work in collaboration with healthcare professionals with expertise in ataxia to publish our Medical Guidelines, ‘Management of the ataxias: towards best clinical practice’, a resource for healthcare professionals on the diagnosis and management of the progressive ataxias.  

As well as being a useful resource, the Medical Guidelines also highlight the gaps in our knowledge and the need for more evidence-based research in many areas. The lack of disease-modifying treatments for the majority of ataxias is well known, but there is also a need to develop drugs to alleviate symptoms.

These treatments would have a huge impact on the lives of people with a range of ataxias. Associated symptoms such as tremors and fatigue are also poorly managed, and there is little that can currently be done to assist people with vision and hearing problems. Although there are a few pilot studies* in physiotherapy, speech and language and occupational therapy, there is a lack of larger trials that provide robust evidence in these areas. When the needs of people affected by ataxia are compared with the opinions of healthcare professionals who have an expertise in ataxia, there is much overlap in the needs identified. 

This section outlines the glossary of terms used throughout the Ataxia UK Research Strategy

Antisense oligonucleotide (ASO)
A type of treatment that targets a specific section of DNA, to prevent it from producing a protein. 

Biomarker
A measurable indicator of a condition. Biomarkers can be measured as an indicator of the progression of a condition, or in response to a medication. 

Gene therapy
Altering the genes or DNA of a person, animal or cell, by inserting, replacing or deleting a section of DNA. In ataxia research, this is typically with the aim of treating a genetic ataxia. 

Pilot study
A small-scale preliminary study conducted prior to a larger research project, in order to show feasibility, obtain early results and identify potential problems.

Pivotal trial
A clinical trial that demonstrates and confirms the safety and efficacy of a treatment, and provides the evidence required to apply for regulatory approval. 

Translational research
Research aimed at translating results from earlier stage research into results that directly benefit people living with the condition. 

Whole genome sequencing (WGS)
A genetic test during which all of a person's genes are read. 

There have been significant advances in ataxia research in recent years.  

We have seen developments in diagnosing the ataxias that are significant for not only providing information about the condition, but also for the development of new approaches to treatment. We were delighted that following positive results from Reata Pharmaceuticals’ pivotal trial*, Omaveloxolone (now known as SKYCLARYS) has now been approved by the Food and Drug Administration (FDA) to treat over 16s with Friedreich’s ataxia (FA) in the United States. As the first approved treatment for FA, this is a remarkable step forward.  

Overall, there have been an increasing number of clinical trials that test medications, including drugs and genetic approaches, for a number of ataxias. This enhanced level of activity makes us hopeful that more successful treatments will emerge.  

In addition to a collaborative community of university researchers working on the ataxias, there are now numerous biotech and pharmaceutical companies also trying to develop treatments. Gene therapy* and other genetic approaches are receiving much attention, especially following the successes of these approaches for treating other conditions.  

• Friedreich’s ataxia treatment trials: 10 trials testing different medications are currently taking place

• A number of studies have shown that non-invasive brain stimulation could be effective at treating the symptoms of ataxia

• Two pilot studies* investigating speech therapy delivered online, and a peer-support model of speech therapy, showed improvement in elements of speech for people with ataxia

• Publications from the Sheffield Ataxia Centre identified a treatment for Primary Autoimmune Cerebellar Ataxia (PACA)

• The identification of genes which cause CANVAS (Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome) and SCA27B will lead to an increase in diagnoses

• Whole Genome Sequencing (WGS)* is more widely available, and can be used to diagnose a number of ataxias more rapidly than regular genetic testing

• Natural history studies are underway for a number of ataxias, providing valuable information for use in future trials

• A number of cell and animal models have been developed for different ataxias, aiding research into treatments and cures

• Antisense Oligonucleotides* (ASOs) show promise for a number of ataxias in preclinical work, and encouragingly ASO clinical trials for the ataxias have now begun

• A number of drug repurposing studies, which might provide a faster route to treatment for ataxia, are ongoing

• Advances in the use of Artificial Intelligence (AI) to identify drug candidates offers hope for the future. 

  

Ataxia UK is committed to finding treatments and cures for the ataxias and in ensuring these are made available to people with ataxia. 

To achieve these aims, we invest funds in our Research Department to manage the research activities of the charity. The Head of Research and the Research Department have an understanding of the ataxia research landscape and keep abreast of developments, making them well placed to work with Trustees on selecting research activities that promise to achieve the maximum impact and to help us towards our goal of finding treatments and cures for the ataxias. In addition, one of our advisors is a pharmacologist and an ataxia parent, who provides additional support to the research team, and acts as the scientific advisor to the Board of Trustees. Our independent Scientific Advisory Committee and Medical Advisory Panel also provide valuable advice and support to Ataxia UK. 

Ataxia UK’s mission is to find treatments and cures for the ataxias. To achieve this, the objectives of Ataxia UK are to: 

• Gain a better understanding of the ataxias

• Improve diagnosis

• Develop treatments that are available to people with ataxia

• Improve physical and mental quality of life for people with ataxia 
  

These will be achieved by Ataxia UK’s involvement in various ways:

• Promoting promising research on ataxia
  
  
• Putting the results of research into practice

• Facilitating patient involvement and engagement in research

• Representing people with ataxia in international ataxia initiatives

• Disseminating research through conferences, publications and social media  

Funding research projects 

Ataxia UK funds research projects that cover a wide range of progressive ataxias, mostly within universities and research institutes.  

The charity’s independent Scientific Advisory Committee advises our Trustees on which projects to fund and comprises scientists with a wide range of expertise in relevant disciplines, along with lay people who have personal experience of ataxia. 

We award our grants to selected applications by considering advice from expert external peer reviewers. As a member of the Association of Medical Research Charities (AMRC), Ataxia UK follows their good practice recommendations to ensure there is a robust selection process, and passed the most recent AMRC peer review audit. Membership of the AMRC also gives us access to its support, information and its member charities, connecting us to the UK medical charity research community. As members of the AMRC, we follow good practice guidance in all research that we fund, such as following good practice in animal research and ensuring all funded projects have obtained relevant ethical approval. 

Ataxia UK research staff administer and manage the research grant programme from every stage, including the selection phase, monitoring funded projects and assisting researchers in maximising the impact of the project and the dissemination of results. We value and facilitate the input of people with ataxia in the design of research studies (such as clinical trials).  

The charity funds studies that have the maximum potential of making an impact. This includes studies that work towards developments in diagnosis, treatments and new scientific and clinical tools to assist in research. Ataxia UK accepts applications from researchers based in any country, but the research must have relevance for people affected by ataxia in the UK. 

When selecting projects to recommend for funding, the Scientific Advisory Committee considers the scientific quality, likelihood of success and potential benefit to people with ataxia as key parameters, and takes advice from external peer reviewers. Projects need to be based on strong preliminary evidence and show a clear pathway to maximising the impact of the outputs generated, and where appropriate, for the continuation of the studies at the end of the funded project. Innovative projects involving promising new ideas are encouraged, as are projects that are close to a potential treatment. Addressing the needs identified by people with ataxia, and the gaps in knowledge identified by ataxia healthcare professionals, are also important to Ataxia UK.  

Ataxia UK will look favourably upon projects that:  

• Have the potential to involve joint collaborative funding
• Involve collaborations between research groups
• Fund younger researchers who potentially may be developing a career in ataxia research, particularly in the UK
• Include public and patient involvement activities (this is considered essential for all clinical studies involving people with ataxia as participants)
• Involve clinical or translational research* or have a more immediate pathway to future treatments (trials involving human participants within the UK are prioritised over trials outside of the UK). 

A detailed guidance document for researchers wishing to apply for funding can be found on the following page

Case study: Ataxia UK-funded research makes an impact 

Dr Lorenzo Cingolani was awarded £5,000 from Ataxia UK to study gene therapy* for Episodic Ataxia Type 2 (EA2). Dr Cingolani used preliminary data obtained using this grant to secure £250,000 in further funding from The Telethon Foundation in Italy to continue his work in EA2 gene therapy* Indeed our data shows that for every pound invested by Ataxia UK, almost £5 in further funding is generated, specifically for ataxia research.

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Promoting ataxia research in industry 

In the past few years, interest in ataxia from the pharmaceutical industry has increased, due to progress in a number of research areas such as disease targets, biomarkers* and an improvement in clinical information.   

This is true of all areas of ataxia research – from symptomatic treatments to gene therapies*. This is demonstrated by the increase in the number of companies involved in developing gene approaches for the ataxias in the last decade. Today, there are at least 15 pharmaceutical and biotech companies with programmes aimed at developing genetic approaches to treat ataxia.  

It is now recognised that the ataxias offer opportunities for pharmaceutical and biotech companies to make a huge impact by being the first to develop an approved treatment. Ataxia UK often meets with pharmaceutical and biotech companies to highlight the opportunities that are available if they enter the ataxia field.

In addition, Ataxia UK will continue to play a pivotal role in assisting researchers in academia and industry by: 

• Providing information and advice on the research landscape 

• Facilitating meetings and introductions

• Explaining the impact ataxia has on people with the condition 
  

• Ensuring that the patient voice is included at all stages of research, including when planning clinical trials

• Facilitating the collection of data from people affected by ataxia via interviews, workshops and surveys, which is also valuable for interactions with the regulatory agencies

• Facilitating the recruitment of participants to trials and other studies 

This will be achieved by Ataxia UK research staff attending and presenting at relevant conferences, and working in partnership with existing and new contacts.  

Ataxia UK’s Pharma Strategy Advisory Group helped to develop a leaflet to assist our work with the pharmaceutical industry, and continues to help us in this area through regular meetings. 

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 Supporting researchers in projects 

Ataxia UK acts as a partner to researchers applying for large multi-site grants from other funding bodies, e.g. national and EU funding programmes.  

As a patient representative group, Ataxia UK can strengthen all stages of projects by offering assistance with:  

• Providing the patient perspective at all stages of research

• Recruitment to studies 

• Writing and sharing surveys designed to capture patient voice

• Dissemination of project results 

In recent years, a number of ataxia projects have been selected for funding from EU funding programmes. We are currently named as patient representatives in a number of European projects focused on a range of ataxias, either as Ataxia UK or via our involvement with Euro-ataxia. 

We also maintain registries of health professionals and researchers with an interest in ataxia, to whom we regularly disseminate information about funding opportunities, as well as relevant events and research findings. 

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Supporting the ataxia research community within the UK 

Ataxia UK supports the ataxia research community within the UK, to enable collaborations and increase the chance that people affected by ataxia in the UK benefit from research.  

In the research that we fund, we prioritise studies involving human participants in the UK over those taking place outside of the UK (this includes interventional trials as well as natural history studies). We support the recruitment of participants to studies, and encourage researchers and pharmaceutical companies to carry out trials in the UK. 

Ataxia UK plans to hold research meetings for UK ataxia researchers, to enable networking and support collaboration. The first of these meetings is planned for 2023. 

Our network of healthcare professionals involved in ataxia treatment and care also supports this aim. A requirement of Ataxia UK-accredited Specialist Ataxia Centres is that they must be involved in research, and our Medical Advisory Panel often discusses matters of ataxia research within the UK.  

Turning research findings into practice is the ultimate important step to ensuring that people with ataxia are benefiting from research advances. As more trials are taking place to test treatments for the ataxias, Ataxia UK research staff are getting increasingly involved. Much of the infrastructure is already in place to facilitate this translational medicine process. The Specialist Ataxia Centres, clinics in the NHS established in partnership with Ataxia UK, and our engagement with clinicians interested in ataxia via our Medical Advisory Panel, will assist us with this task in the UK.   

Our active involvement in Euro-ataxia, the federation of 20 European ataxia charities, helps us to share best practice/experiences, collaborate in funding research and campaign jointly for access to treatments. The development of the European Reference Networks for rare neurological diseases (which includes the ataxias), also assists in translating research into clinical practice both in the UK and across Europe. Ataxia UK also collaborates with ataxia charities worldwide, having particularly close partnerships with two main US ataxia charities.  

Collaboration with the pharmaceutical industry will also play a major role in getting medicines approved and delivered to people with ataxia. Ataxia UK works closely with a number of companies, ensuring the perspectives of those affected by ataxia are taken into account at all stages. Working with regulators and health service providers is also essential to succeed in making treatments available. Ataxia UK strives to provide the patient voice in ensuring access to treatment. This is becoming increasingly important as treatments for the ataxias enter the clinic. 

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Improving healthcare services for people with ataxia

In addition to our research aims, Ataxia UK works with policy organisations to campaign for better healthcare services for people with ataxia. This involves ensuring research developments are made available to people living with ataxia. We are active members of the Neurological Alliance, the organisation that campaigns for people with neurological conditions. Ataxia UK is also a member and works closely with Genetic Alliance UK and Rare Disease UK, the umbrella organisations working for people with genetic conditions and rare conditions respectively.  

Ataxia UK is also involved in the European Brain Council’s Value of Treatment for Brain Disorders project. The ataxia arm of this project aims to explore the patient pathways of people with progressive ataxia, to compare their experiences attending specialist ataxia centres with care in non-specialist settings. Promising results from this project showed that patients thought that the care delivered by specialist centres was better than in a non-specialist setting. Ultimately, the European Brain Council plans to use the evidence from this project to improve treatment and care for people with rare neurological conditions across Europe.  

Ataxia UK regularly responds to relevant consultations with the NHS to ensure that ataxias are being considered in development of healthcare policy and strategies. One such consultation on clinical pathways for neurological conditions resulted in the publication of an ataxia appendix to the movement disorder pathway for people in England, written by Ataxia UK in consultation with members of the Medical Advisory Panel. The ataxia appendix highlights the Medical Guidelines and referrals to Ataxia Centres, which we hope will improve knowledge of the appropriate patient pathway among neurologists and healthcare professionals. An active involvement of Ataxia UK’s CEO in National Health Service Boards also helps us to shape government policy.

Case study: Speech therapy research becomes Ataxia UK service

Evidence for the effectiveness of speech treatment to improve communication for people with ataxia is steadily increasing. Over the last five years Prof Lowit and her team have contributed critical studies to this topic, by testing different speech treatments for people with ataxia. In an Ataxia UK-funded project completed in 2019, they showed that treatment focusing on a loud, clear voice had some benefits for people with ataxia. In a subsequent study carried out in collaboration with Ataxia UK in 2020, they added a peer support element, which enabled participants to practise in a group setting every day for four weeks. Intelligibility improved for almost everyone that took part, and communication confidence improved for all participants.

Based on this research, Ataxia UK now provides a speech therapy service, comprising individual treatment with a Speech and Language Therapist, followed by group sessions.

“Since attending the group, people don't ask what" like they did before when I spoke, which means by speech is clearer. It has changed my life.” - Peter

Ataxia UK has a large registry of people with ataxia, and the charity is therefore in the unique position to act as a link between researchers and patients.  

• We provide assistance to researchers by publicising and helping with recruitment for research studies. This helps to reduce the timeframes for recruiting for studies, and their completion

• We work collaboratively with researchers and industry to create and publicise surveys for healthcare research projects

• Provide information to researchers from surveys conducted by Ataxia UK 

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Patient engagement 

The impact of involving people affected by ataxia in research studies cannot be underestimated and Ataxia UK continuously seeks ways of maximising patient engagement.  

For example, we have been able to improve the relevance of this strategy for people affected by ataxia as a direct result of our symptom burden survey. The membership of people affected by ataxia in our Scientific Advisory Committee, Medical Advisory Panel, and Board of Trustees, ensures that all major decisions take the views of people with ataxia into consideration. Ataxia UK also organises workshops to engage people affected by ataxia in individual research studies, including their input in the design of clinical studies. As members of Euro-ataxia, Ataxia UK upholds the Euro-ataxia Patient Charter, which states that all ataxia clinical studies should involve the input of people affected by ataxia (those affected and their parents or carers) and patient group representatives.  

Ataxia UK surveys people with ataxia and their family members to better understand their needs and the impact ataxia has on their lives. Data on the impact of ataxia was collected from over 400 people, and the results were published in AMRC Open Research in 2021. Results showed that the symptoms having the greatest negative impact were those related to balance, coordination and speech. Additionally, fatigue was identified as having an impact, followed by bladder problems. Unsurprisingly, a number of mental health issues were also highlighted. These findings were consistent with the information we gather from our Helpline. This highlights the areas in need of further research to improve quality of life for people living with ataxia.  

A study showed that many people with ataxia are willing to take part in clinical trials. This study was conducted by researchers at UCL/UCLH, along with Ataxia UK, Friedreich’s Ataxia Research Alliance (FARA), and researchers at Children’s Hospital of Philadelphia, looking at the attitudes of people with ataxia towards clinical trials. This study, published in the Orphanet Journal of Rare Diseases, is a helpful resource for those planning clinical trials, and emphasises the importance of including the voice of the patient. 

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Patient registries 

Patient registries are a vital resource for researchers, providing information directly from people living with ataxia, as well as providing a way to connect patients to relevant clinical trials. 

The Friedreich’s Ataxia Global Patient Registry (FAGPR) was launched in 2019. The FAGPR was developed by charities supporting people with FA, including Ataxia UK, to be the international registry for FA research. As a lead organization, Ataxia UK has representation on the Registry Governance Board. The CureDRPLA patient registry was launched in 2020 by Ataxia UK and the US Foundation CureDRPLA. Patient registries for other ataxias are also being considered. 

Heather took part in a clinical trial for a potential FA treatment: “My involvement with a study into a possible drug to treat FA was a very positive and exciting one, as it made me feel like I was involved in making a possible difference to the future

trpatment or a condition which currentlu has none. Born the doctor and researcher was in treatment of a condition which currently has none. Both the doctor and researcher I was in contact with were lovely to deal with and totally understood the limiting nature of FA and the need to find a treatment. If the possibility to take part in a further trial was offered, I would love to part of it!”

Representing people with ataxia in international ataxia initiatives 

Working internationally is especially important in research and healthcare for rare diseases, where small patient numbers in each country means it is often necessary to do trials and other studies collaboratively and internationally in order to involve sufficient patients to be of significance.  

As more treatment trials for the ataxias are planned, trial-readiness is now more important than ever. Ataxia UK is active in this area, acting as patient representative on a number of European and global initiatives. 

Ataxia UK’s Head of Research is a member of the Steering Committee for the Ataxia Global Initiative (AGI), which is a worldwide research platform that has the goal to facilitate the clinical development of therapies for ataxias. Members of the AGI coordinate the ways in which they conduct clinical research, to ensure that the ataxia research community is prepared to conduct treatment trials in the future. 

Ataxia UK’s Head of Research is involved in the Critical Path Institute’s ataxia consortium as a member of the Coordinating Committee. The aim of this consortium is to act as the bridge between researchers and the regulatory agencies, to identify acceptable end-points for use in clinical trials. This is becoming increasingly important to improve the success rate of treatment trials. Ataxia UK is also a member of The Pistoia Alliance; a members organization involving pharmaceutical companies and patient groups, collaborating to solve common barriers within research. Patient representatives within the Pistoia Alliance published a paper on how charities and biopharmaceutical companies can work as partners in patient-centred research. This was an opportunity to highlight ataxia and the work Ataxia UK does, emphasising the importance of research-active patient groups.  

A group of ataxia charities in Europe, under the auspices of Euro-ataxia, continue to have representation in a Friedreich’s ataxia natural history study (EFACTS), involving a number of hospital sites in European countries, including the UK. Another study looking at the progression and clinical features of SCA3 (ESMI) recently published important work on SCA3 biomarkers*. Ataxia UK played a pivotal role in organising these collaborations between academia and patient groups, and continues to have a place on the Steering Committee of both projects.  

 

Other collaborative global initiatives such as patient registries and natural history studies are also underway, with Ataxia UK taking a prominent role in promoting and supporting them. 

Research conferences are hugely beneficial in pushing research forwards; providing a platform for dissemination of research ideas and findings; networking, and the creation of new collaborations.   

We believe that by pooling resources and working jointly with other ataxia charities to organise the International Congress for Ataxia Research Conference, we play a significant role in driving research forwards.  

We ensure that people affected by ataxia are involved in research and kept informed of research developments through Ataxia UK events; our quarterly magazine; monthly e-newsletter; Helpline and social media channels.  

 

Networking at the International Congress for Ataxia Research (ICAR) 2022 Networking at research conferences offers researchers the opportunity to share ideas, discuss results, and form new collaborations. At ICAR 2022, organised by Ataxia UK, the Friedreich's ataxia research alliance (FARA), and the National Ataxia Foundation (NAF), 96% of attendees made new contacts. 

As demonstrated above, Ataxia UK firmly believes that working in partnership with organisations that have the common interest of ataxia enables us to achieve more than we could do alone. 

We already have many close links with ataxia patient groups around the world, and our International Congress for Ataxia Research Conferences are now being organised in partnership with other ataxia charities. In 2020, we started a collaboration with CureDRPLA – a charity focused on a rare type of ataxia called DRPLA. This collaboration has resulted in Ataxia UK employing a dedicated DRPLA Research staff member who coordinates the activities, such as the funding of research projects, the initiation and management of a DRPLA patient registry, and a global natural history study.

The funding of research projects often takes place in partnership with ataxia charities worldwide, UK charities, universities (e.g.: co-funded PhD studentship schemes) and, sometimes, pharmaceutical companies.  

Our ambition is to support the development of safe and effective treatments for the ataxias. Our Research Strategy is an important plank in this aspiration. We are always keen to discuss our work and receive feedback. Please get in touch if you would like more information or to discuss our work.