The 3rd international ataxia research conference, organised by Ataxia UK, FARA, FARA Australia and GoFAR, took place on 14-16 November 2019. It was a great success, with over 400 attendees, including basic science and clinical researchers, 17 patient groups, and representatives from a number of pharmaceutical companies. Attendees benefited from a full programme of research updates covering all types of ataxia. Research ranged from early stage laboratory-based studies to later stage clinical trials.

The programme began with a talk by pharmaceutical company Avexis about the recently-approved gene therapy treatment for the neurological condition Spinal Muscular Atrophy (also called SMA). Although SMA is not an ataxia, it was encouraging to hear the positive results patients are seeing with this gene therapy. This gives us hope that this kind of treatment could be applied to ataxia in the future. Many gene therapy updates followed, with researchers studying a range of techniques to develop gene therapy for Friedreich’s ataxia (FA), and a number of spinocerebellar ataxias (SCAs).

Another theme that emerged was the need for new biomarkers to measure ataxia. Clinical rating scales, such as mFARS and SARA, are often used to measure the severity of ataxia during clinical trials. However, the scores on these rating scales can be highly variable, and have to be measured over a very long period of time in order to detect improvements in response to treatment. Many researchers are looking at alternative measures, such as by measuring the level of certain markers in blood samples. A group in Australia presented a novel technique using a spoon which measures movement. People with ataxia were asked to mimic the eating of cereal using the spoon, which very sensitively measured their movement. This could be a more sensitive way of measuring ataxia in the future, which could mean shorter and more informative clinical trials.

Professor Marios Hadjivassiliou, who runs the Sheffield Ataxia Centre, gave an overview of 24 years of experience treating people with gluten ataxia. Gluten ataxia occurs when people have a sensitivity to the gluten protein, causing a loss of cells in the cerebellum, which leads to ataxia. Professor Hadjivassiliou first wrote about gluten ataxia in 1998, and has since diagnosed and managed 600 gluten ataxia patients.

Professor Marios Hadjivassiliou

The conference gave researchers the opportunity to discuss their research with others, to identify questions and problems they have in common, and to work together to push research into the ataxias forward.

Patient panel

On the final day of the conference, William Littleboy (co-chair of Ataxia UK) took part in a patient panel discussion, moderated by Kyle Bryant from FARA. The panel also included Cathalijne van Doorne, the President of Euro-ataxia. The panel discussed the symptoms that they feel are the most important to be addressed by research, and their hopes for the future of ataxia research.

Patient panel

Satellite meetings

The day before IARC 2019 began, members of the Ataxia UK research department attended a satellite meeting about Machado-Joseph Disease (MJD, also known as SCA3). This was a research meeting organised alongside IARC 2019, by the Machado-Joseph Foundation in Australia. As well as a range of SCA3 research talks, there was a discussion between researchers and a patient panel, and Ataxia UK staff were able to meet representatives from the MJD Foundation.

MJD Satellite Meeting

After IARC 2019, the research department attended an ARCA Global meeting. ARCA Global is the network being developed to study all recessive ataxias (not including FA, which has a separate initiative). Dr Julie Greenfield, Head of Research at Ataxia UK, is part of the ARCA Global steering committee, and is providing the patient perspective along with Sue Hagan from the National Ataxia Foundation.