Euro-ataxia held the latest annual meeting on 9-10th November 2018 in Frankfurt, Germany, hosted by the German ataxia charity DHAG, organised by Ataxia UK and sponsored by BioMarin. It was attended by a total of 20 Euro-ataxia representatives from 14 different groups attended (including two new members).
The programme involved a number of talks on research and discussions between patient groups, researchers and pharmaceutical companies interested in ataxia. A comprehensive list of the talks and discussions that took place can be found on the Euro-ataxia website here.
Posted on 27/11/2018
Glut 1 deficiency syndrome trial announces negative results
Ultragenyx Pharmaceutical Inc., a biopharmaceutical company focused on the development of novel products for rare genetic diseases has announced that its Phase 3 study of a potential therapy for Glucose transporter 1 deficiency syndrome (Glut1 DS) did not produce a positive result. Glut1 DS is a condition which results in seizures, developmental delay as well as ataxia. See Ataxia UK’s Medical Guidelines here.
“We had previously observed significant improvements in individual cases of Glut1 DS with UX007 and so we are particularly disappointed by the results of the Glut1 DS study in a larger group of patients that did not demonstrate this same effect” said Emil Kakkis, M.D., Ph.D., Chief Executive Officer and President of Ultragenyx.
Development of UX007 in Glut 1 DS will therefore unfortunately be discontinued, however it will continue to be investigated for other, similar disorders. For the full press release see here.
Study discovers 3 potential blood based biomarkers for FA
Professor Paola Giunti and her team at the London Ataxia Centre have recently published results from their study into the diagnostic potential of several blood proteins to monitor Friedreich’s ataxia (FA). They discovered that high blood levels of three specific proteins may represent new biomarkers to monitor active immune cells and ongoing nerve cell damage in Friedreich’s ataxia.
The team found that levels of glial fibrillary acidic protein (GFAP), a biomarker previously linked to the activity of nervous system immune cells (glial cells) as well as neurofilament-light chain (NfL) and ubiquitin C-terminal hydrolase L1 (UCHL1), proteins associated with nerve cell damage, were elevated in patients with FA. There was, however, no association between these proteins levels and disease symptoms severity
“This study represents the first investigation of plasma markers of neurodegeneration in Friedreich’s ataxia,” the researchers wrote. “[Findings] may serve as the basis of further exploration of these brain-derived proteins as promising biomarkers in Friedreich’s ataxia.”
The findings were reported in the study, “Plasma Markers of Neurodegeneration Are Raised in Friedreich’s Ataxia,” published in the journal Frontiers in Cellular Neuroscience and can be found in full here.
Results published from part 1 of Friedreich's ataxia drug trial
The results from part 1 of a clinical trial investigating a potential therapy for Fredreich’s ataxia have been published. Omaveloxolone, a drug that we reported in July after it gained a new Orphan drug designation for Friedreich’s ataxia with Reata Pharmaceuticals (see here), has been in the process of being tested in 2-part international, multi-centre, randomized, double-blind, placebo-controlled phase 2 trial, referred to as MOXIe.
The results of part 1 of the study were published in the Annals of Clinical and Translational Neurology journal (see here). The study found Omaveloxolone was well tolerated, and adverse events were generally mild. Treatment of Friedreich ataxia patients with omaveloxolone at the optimal dose level of 160 mg/day appeared to improve neurological function.
The investigation is continuing in part two of the trial at various sites around the world including the London ataxia centre. Results from part two of the trial are expected in second half of 2019.
Posted on 23/11/2018
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.
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.
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.
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