Ataxia UK were saddened to hear that Biogen have stopped their Phase I clinical trial for SCA3 therapeutic BIIB132 (MERA study). The trial was planned to be an international study, […]
Biogen announce they have stopped SCA3 clinical trial Read More »
SIMPATHIC Consortium receives grant from European Commission The SIMPATHIC Consortium, led by the Dutch Radboud University Medical Center and Amsterdam University Medical Centers, has developed a new approach to expedite
8.8 million euros for accelerated drug repurposing for rare neurological disorders Read More »
Vico Therapeutics is a company developing therapies for neurological conditions, including some of the SCAs. In April 2023, they announced that they have dosed the first patient in their Phase
Vico Therapeutics – First patient dosed in trial Read More »
A recent study led by a group of researchers in Portugal tested the effect of trehalose on an animal model of SCA3.
The optimal clinical pathway sets out what good treatment, care and support looks like for people with neurological conditions, from those experiencing the first symptoms, to those that have lived
Optimal clinical pathway for people in England with rare neurological conditions Read More »
Professor Anja Lowit (University of Strathclyde) and team have published positive results from their study of a new approach to speech therapy, called ClearSpeechTogether. In this Ataxia UK-funded project, people
Positive results from Ataxia UK-funded speech therapy project Read More »
Many people with ataxia do not have a specific genetic diagnosis and the cause of their ataxia is unknown. Two papers have been published which have identified a genetic mutation
New genetic cause of late-onset ataxia discovered Read More »
The 100,000 Genomes Project, launched in 2013, aimed to sequence 100,000 genomes from people with rare conditions, such as ataxia, or cancer. Sequencing the whole genome of people with rare
Did you take part in the 100,000 Genomes Project? Read More »
Rare neurological conditions, such as ataxia, often cause problems with balance and coordination, which can limit physical activity. Interventions aimed at improving levels of physical activity are often recommended, for
Measuring physical activity in trials Read More »
Last year, we publicised two surveys from the British Paediatric Neurology Association (BPNA) and the James Lind Alliance (JLA). The aim of these surveys was to identify research priorities for
Top Ten UK research priorities for interventions in childhood neurological conditions Read More »
Researchers from The German Centre for Neurodegenerative Diseases (DZNE) in Tübingen, and the ESMI Consortium, have published a study looking at the potential for gait measurements to quantify progression of
Gait measurements as a potential biomarker for SCA3 Read More »
The research that Ataxia UK funds has a real impact on the world of ataxia research, and our understanding of all ataxias. Every year we ask Ataxia UK-funded researchers to
Research Impact Report 2022 Read More »
Dr Hector Garcia-Moreno is a Neurologist and Clinical Research Fellow working at the London Ataxia Centre, in the team led by Professor Paola Giunti. Dr Garcia-Moreno is involved in the
Identification of SCA3 biomarkers – an interview with Dr Hector Garcia-Moreno Read More »
In January 2022, researchers at UCL/UCLH, Children’s Hospital of Philadelphia, Ataxia UK and Friedreich’s Ataxia Research Alliance (FARA), published a paper on the attitudes of people with ataxia towards clinical
Paper published on the attitudes of people with ataxia towards clinical trials Read More »
An article published in the Lancet Neurology showed that whole genome sequencing (WGS) can detect common inherited neurological disorders, including some ataxias. Genetic testing can be a slow process, with
A simple DNA test can detect common neurological disorders Read More »
Spinocerebellar ataxias (SCAs) are a group of rare, progressive hereditary genetic disorders that affects the cerebellum, brain stem and spinal cord. Currently, more than 30 types of SCAs have been identified. SCAs are caused by genetic mutations,
In their Ataxia UK-funded research project, Dr Mariana Santos Moreda Graça and her team at the Institute for Molecular and Cell Biology (IBMC, Portugal) developed new cell models to help
Ataxia UK-funded project develops new TTBK2 cell models Read More »
In the clinic, assessment of cerebellar ataxias has been largely confined to clinical rating scales (e.g. Scale for Assessment and Rating of Ataxia -SARA-), gait laboratories, imaging of the brain,
Development and Validation of a Patient-Reported Questionnaire of Ataxia Progression Read More »
A new paper from the team at the London Ataxia Centre provides new information on symptoms of the lower urinary tract (LUT) and the bowel in people with spinocerebellar ataxias (SCAs). The lower urinary tract consists of
Ataxia UK, along with Ataxia Global Initiative and National Ataxia Foundation, recently partnered with Critical Path Institute (C-Path) for the launch of their Critical Path to Therapeutics for the Ataxias
On September 25, 2020 the National Ataxia Foundation (NAF) and CureDRPLA organised the Externally-Led Patient Focus Drug Development (EL-PFDD) meeting. You can watch the recording here. The EL-PFDD meeting provided a unique opportunity for the
A new government strategy to improve the lives of people living with rare diseases, across the 4 nations of the United Kingdom, has now been launched. The UK Rare Disease Framework, following on from the previous Rare
UK Rare Disease Framework launched to improve diagnosis and treatment of rare diseases Read More »
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is caused by a genetic mutation in the ATXN3 gene. SCA3 is thought to be the most common SCA worldwide,
Neurofilament light tracks SCA3 progression Read More »
A novel test that can measure the faulty protein levels in people with Spinocerebellar Ataxia 3 (SCA3)
Measuring the faulty protein in SCA3 Read More »
In a project funded by Ataxia UK and the Swiss Association of Friedreich’s Ataxia (ACHAF), Professor Anja Lowit showed positive results using Lee Silverman Voice Treatment (LSVT) for ataxia.
Speech therapy project shows success Read More »
Researchers in Japan have shown that a compound called Arginine is able to prevent harmful protein clumps from forming in cell models of polyglutamine disorders.
Arginine shows promise in a number of different ataxias Read More »
Dr Marta Olejniczak and her colleagues have used a genetic tool to silence the expression of mutated genes containing expanded CAG repeats in patient-derived cell lines of various ataxias.
Genetic approach to treat many spinocerebellar ataxias Read More »
Leading gene therapy uniQure have published data on their gene therapy candidate AMT-150.
uniQure publishes data from spinocerebellar ataxia type 3 gene therapy study Read More »
At the Euro-ataxia meeting in Frankfurt on 9th November 2018 a workshop was held to discuss the role of patients and patient groups in research. This led to the creation of the Euro-ataxia patient charter which has now been published.
Earlier this year the FDA granted an Orphan Drug Designation to an investigational treatment developed by Cadent Therapeutics for spinocerebellar ataxia. They plan to begin a clinical trial by the end of 2019.
Cadent Therapeutics aims to begin new trial in SCAs by the end of 2019 Read More »
