Research News

Catch up on the latest results from across the ataxia research world right here. Recent updates are just below; to access earlier research updates, delve into the archive beneath.

International Ataxia Research Conference (IARC) 2019 - Save the date!

Ataxia UK, GoFAR, FARA US and FARA Australia are pleased to announce the next International Ataxia Research Conference to be held on 14-16 November in Washington, DC. 

This will be the 3rd International Ataxia Research Conference where the latest research in Friedreich's Ataxia, SCAs and other progressive ataxias will be presented and discussed.

To view the flyer, click here. More information to follow shortly.

Posted on 28/08/2018

Investigational therapy, EPI-743, shows promise in Phase 2 clinical trial for Friedreich’s ataxia

Results from a Phase 2 clinical trial investigating EPI-743, a therapy developed by BioElectron, have shown that its long term usage may improve neurological function and prevent disease progression relative to the natural course of Friedreich’s ataxia (FA).

EPI-743 is a potent antioxidant, which can regulate the response of key enzymes involved in the processes of oxidative stress, inflammation and cell death. This randomised, placebo-controlled Phase 2 trial tested the safety and efficacy of the drug on 63 adults with genetically confirmed FA. The therapy was found to be safe and well-tolerated with no reported serious adverse events or toxicity related to treatment.

Results initially failed to reveal any significant differences between those who took EPI-743 or placebo in any of the measured clinical parameters. As a result, post-hoc analysis, including only patients who had shown improvement of at least five points per year on the FARS-Neuro (a threshold indicative of the natural course of disease progression) was performed. This demonstrated that significantly more patients on EPI-743 experienced an improvement of three points or more than placebo, and significantly fewer experienced a three-point decrease.

Further studies are needed to evaluate the long-term impact of EPI-743. See the full press release from Friedreich’s Ataxia News here, or view the research paper here. 

Posted 24/08/2018

National Genomic Test Directory

From October 2018 the National Genomic Test Directory will specify which genomic tests are commissioned by the NHS in England, the technology by which they are available, and the patients who will be eligible to access a test. The final draft 2018/2019 National Genomic Test Directory for rare and inherited disorders and cancer can be accessed here. Among the rare and inherited disorders covered are hereditary ataxia with onset during childhood and hereditary ataxia with onset during adulthood.

Posted 24/08/2018

Science and research funds from EU programmes guaranteed even in no-deal scenario

UK researchers have been assured by the British government that any funding they gain through EU programmes, up until the end of 2020, will be guaranteed by the UK government should Brexit negotiations end with no deal being agreed. 

This guarantee includes projects covered by Horizon 2020. Any successful bids made by 31st December 2020 will be entitled to their allocated funding in full and will continue to receive funding for their entire duration. British researchers therefore have certainty over future funding and should feel encouraged to continue bidding for competitive EU funds while the UK remains a member.

This decision builds upon previous commitments made by the UK Government in August and October 2016. Read the HM Treasury press release in full here.

Posted 24/08/2018

Interview with PhD student and ataxia researcher Wayne Yau

Ataxia UK is funding a project alongside the Spanish organisations R+SCAs (Plataforma de Apoyo a la Investigación de las Ataxias Espinocerebelosas) and ACAH (L’Associació Catalana d’Atàxies Hereditàries), investigating the involvement of DNA repair mechanisms in the modulation of age onset in a range of ataxias.

The project is led by Dr Conceição Bettencourt, Prof Henry Houlden, Prof Paula Giunti and Prof Nick Wood at the UCL Institute of Neurology.

We interviewed PhD student Wayne Yau about his aspirations for the project. Read the full interview here.

Posted on 31/07/2018

New EU Orphan drug designation for Freidreich’s ataxia

Omaveloxolone, a drug put out by Reata Pharmaceuticals, has recently received an Orphan drug designation for Friedreich’s ataxia from the Committee for Orphan Medicinal Products of the European Medicines Agency’s (EMA). This means that Reata now has the Orphan drug designation for Omaveloxolone from both the FDA (US) and the EMA (EU). You can find the press release here about this new designation.

The drug displayed positive effects in an in vitro study (read the press release here and has been further supported by the first part of a 2-part international, multi-centre, randomized, double-blind, placebo-controlled phase 2 trial, referred to as MOXIe. Results from part one of the study have indicated dose and time dependent improvements in those treated with omaveloxolone.

Reata is currently in the process of enrolling about 100 patients with Friedreich's ataxia for part 2 of the MOXIe trial; results are expected in second half of 2019. This drug is the same as the one currently in trials around the world including at the London Ataxia Centre. If you wish to take part you can find more information here.

Posted on 13/07/2018

Hope for gene therapy for Friedreich’s ataxia

This week results were published showing the effects of an AAV (adeno-associated virus) gene therapy in a new mouse model of Friedreich’s ataxia (FA). The mice showed great improvement with this therapy, even after they had developed symptoms, suggesting that at least some of the symptoms of FA may be reversible.

This is very exciting work, with a lot of learnings that will be critical to moving forward with gene therapies for FA. However, the mouse model differs from human patients in many ways, so while this is a very positive indication, the result will not necessarily directly translate to people, and there are many steps to go.

For a full blog article on the trial, and gene therapy click here.

Posted on 11/07/2018

New Friedreich’s ataxia trial started in the US

We reported previously about the pharmaceutical company Takeda having an interest in ataxia and them developing a drug that targets the cerebellum. It is really encouraging to see that this work has now progressed to the human trial stage, and a trial has started testing the effect of their drug, called Tak-831, in people with Friedreich’s ataxia. 

This is a placebo-controlled trial in 65 people with FA for 12 weeks and their main aim is to test the effect on the function of the arms and hands and manual dexterity (using the 9-hole peg test). They will also test a number of other measures.

Ataxia UK has been actively supporting Takeda by providing advice, information on the patient perspective and introductions. We are hoping to hold a meeting of European patient groups soon to assist in the advancement of the programme. You can read more about the trial here. 

Posted on 11/07/2018

The Archive