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 »
Please see below an update from Novartis Gene Therapies on their Friedreich’s ataxia program: February 2022 Novartis Gene Therapies had been developing a therapeutic approach for Friedreich’s ataxia. One candidate,
Update on Novartis Gene Therapies Friedreich’s ataxia Program Read More »
The US biopharmaceutical company Stealth Biotherapeutics is running a phase 1/2 trial of Elamipretide for the treatment of vision loss and cardiac disease in Friedreich’s ataxia (FA). The trial started
Stealth Biotherapeutics begins phase 1/2 trial of Elamipretide in FA 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 »
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 2021 Read More »
At the 2021 Ataxia UK Annual Conference, there was an interesting session from Professor Marios Hadjivassiliou and Emma Foster on immune and gluten ataxias. During the Q and A session, Emma
Ataxia UK Annual Conference: Gluten-free diet tips for gluten ataxia patients Read More »
The Ataxia Magazine Issue 215 reported on a new paper on Friedreich’s ataxia (FA) from the team led by Professor Paola Giunti at the London Ataxia Centre, which has been
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 »
Update 27/09/2022 In May 2021, the US Food and Drug Administration (FDA) put a full clinical hold on Larimar Therapeutics programme for Friedreich’s ataxia (FA) drug CTI-1601. CTI-1601 is a
Larimar Therapeutics: FA Drug Update Read More »
Update 17/11/2022 Omav data presented at the International Congress for Ataxia Research (ICAR 2022 – Dallas, Texas) Dr David Lynch, from the University of Pennsylvania and Children’s Hospital of Philadelphia,
Reata Pharmaceuticals – Omaveloxolone Update 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
Ataxia UK and the US Foundation CureDRPLA are the lead organisations of the CureDRPLA Global Patient Registry. This Registry aims to collect data on as many Dentatorubral-pallidoluysian atrophy (DRPLA) patients
DRPLA Patient Registry Read More »
The International Neuromodulation Society defines therapeutic neuromodulation as “the alteration of nerve activity through targeted delivery of a stimulus, such as electrical stimulation or chemical agents, to specific neurological sites
Neuromodulation of the cerebellum rescues movement in a mouse model of ataxia Read More »
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
Novartis Gene Therapies have announced an update on a gene therapy that they have been developing for Friedreich’s Ataxia (FA) called OAV401. Novartis Gene Therapies develops and commercialises gene therapies for rare genetic conditions, such as FA. They have
Update from Novartis Gene Therapies on treatment for FA Read More »
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 »
FARA’s campaign asks people affected by Friedreich’s ataxia to sign their open letter. The letter addresses the US regulator, FDA, and Reata pharmaceuticals. The letter requests Reata to submit a
Open letter to Reata and the FDA Read More »
Recently, Ataxia UK had a meeting with representatives from Larimar Therapeutics, a clinical-stage biotechnology company focused on developing treatments for complex rare diseases, to discuss possible collaborations to help progress
FA drug clinical trial update: Larimar Therapeutics Read More »
In October 2019, Reata Pharmaceuticals announced positive top-line results from their MOXIe trial testing Omaveloxolone (or Omav) in Friedreich’s ataxia (FA). In the MOXIe trial, Reata used the modified Friedreich’s
Omaveloxolone (Omav) Update 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 »
An experimental treatment for essential tremor
Experimental Treatment for Essential Tremor: MRI guided focused ultrasound for the brain Read More »
IntraBio announce drug IB1001 improves symptoms of NPC
Positive results from Niemann Pick Type C clinical trial Read More »
Professor Hadjivassiliou at the Sheffield Ataxia Centre, and his colleagues have been investigating a type of ataxia, known as ‘PACA’, that could be responsible for a number of idiopathic ataxia cases.
Diagnosing and treating primary autoimmune cerebellar ataxia (PACA) Read More »
An update about Reata Pharmaceuticals Omaveloxolone trial in FA
Disappointing news from Reata and FDA regarding Omaveloxolone 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 »
