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# ataxia-global-initiative

worldwide platform for clinical research in ataxias

## Sitemaps

- [XML Sitemap](https://ataxia-global-initiative.net/sitemap.xml): Contains all public & indexable URLs for this website.

## Posts

- [Ataxia-Global-Initiative created](https://ataxia-global-initiative.net/ataxia-global-initiative-created/)
- [AGI symposium - 22 & 23 November 2021 - online](https://ataxia-global-initiative.net/18-19-march-2022-ataxia-global-conference-orlando-fl-usa/) - AGI symposium - 22 & 23 November 2021 - online The first Ataxia Global Initiative Symposium took place on 22 & 23 November this year. Title: 'Getting ready for clinical trials' (with keynote talks on clinical trials and the talks on the topics from AGI projects and working groups). Program Abstract book Sponsored by IONIS
- [4 & 5 November 2022 | Ataxia Global Conference, Dallas, TX, USA](https://ataxia-global-initiative.net/4-5-november-2022-ataxia-global-conference-dallas-tx-usa/) - The Ataxia Global Initiative (AGI) Conference was organized in a hybrid form. It took place on November 4-5, 2022 in Dallas, Texas, USA and online. The goal of the conference was to bring together academia, industry as well as patient advocacy organizations with a focus on trial-readiness for ataxias (s. the program). You can find
- [14 December 2021 | AGI YII Webinar: "Magnetic resonance imaging in clinical care and research of ataxias"](https://ataxia-global-initiative.net/14-december-2021-agi-yii-webinar-magnetic-resonance-imaging-in-clinical-care-and-research-of-ataxias/) - In the first webinar series of the Ataxia Global Young Investigator Initiative, each AGI Working Group will present an introduction into their topic. On 14 December, WG3 'MRI biomarkers' will provide an overview of the utility of MRI in the diagnostic setting and clinical care of ataxias. They will also summarize the main MR modalities
- [10-13 March 2021 | Annual Ataxia Conference (NAF)](https://ataxia-global-initiative.net/10-13-march-2021-annual-ataxia-conference-naf/) - See the talks and sessions: Annual Ataxia Conference This conference was organised by the National Ataxia Foundation (NAF) and brought together leading ataxia experts. Some of the sessions covered included: Keynote Session: Ataxia Drug Treatment Targets and Pipeline Research - the Key to Unmasking Ataxia Navigating the Diagnostic Journey Gene Therapy 101 Standards of Care
- [Viewpoint: "Paving the Way Toward Meaningful Trials in Ataxias: An Ataxia Global Initiative Perspective"](https://ataxia-global-initiative.net/viewpoint-paving-the-way-toward-meaningful-trials-in-ataxias-an-ataxia-global-initiative-perspective-2/) - Viewpoint: “Paving the Way Toward Meaningful Trials in Ataxias: An Ataxia Global Initiative Perspective.” Authors: Thomas Klockgether, Tetsuo Ashizawa, Bernard Brais, Rosalind Chuang, Alexandra Durr, Brent Fogel, Julie Greenfield, Sue Hagen, Laura Bannach Jardim, Hong Jiang, Osamu Onodera, José Luiz Pedroso, Bin-Weng Soong, David Szmulewicz, Holm Graessner, Matthis Synofzik, on behalf of Ataxia Global Initiative (AGI).
- [22 & 23 November 2021 | AGI symposium (online): “Getting ready for clinical trials”](https://ataxia-global-initiative.net/22-23-november-2021-agi-symposium-online-getting-ready-for-clinical-trials/) - AGI symposium (online): "Getting ready for clinical trials" Date: 22 & 23 November Click here to find more information about the symposium. Register here!
- [9 November 2021 | ERN-RND webinar: “Clinical outcome assessments in ataxia”](https://ataxia-global-initiative.net/9-november-2021-ern-rnd-webinar-clinical-outcome-assessments-in-ataxia/) - ERN-RND webinar: "Clinical Outcome Assessments in Ataxias" Date: 9 November 2021, 3-4pm CET Speaker: Thomas Klockgether, University Hospital Bonn, Germany Venue: Zoom (online) Click here to sign up to the webinar. More information about ERN-RND webinars in collaboration with EURO-NMD and the European Academy of Neurology (EAN) can be found here.
- [Brief report: "Polyglutamine-Expanded Ataxin-3: A Target Engagement Marker for Spinocerebellar Ataxia Type 3 in Peripheral Blood"](https://ataxia-global-initiative.net/brief-report-polyglutamine-expanded-ataxin-3-a-target-engagement-marker-for-spinocerebellar-ataxia-type-3-in-peripheral-blood/) - Brief report: “Polyglutamine-Expanded Ataxin-3: A Target Engagement Marker for Spinocerebellar Ataxia Type 3 in Peripheral Blood” Authors: Jeannette Hübener-Schmid, Kirsten Kuhlbrodt, Julien Peladan, Jennifer Faber, Magda M. Santana, Holger Hengel, Heike Jacobi, Kathrin Reetz, Hector Garcia-Moreno, Mafalda Raposo, Judith van Gaalen, Jon Infante, Katharina M. Steiner, Jeroen de Vries, Marcel M. Verbeek, Paola Giunti, Luis
- [Review article: "The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias"](https://ataxia-global-initiative.net/review-article-the-arca-registry-a-collaborative-global-platform-for-advancing-trial-readiness-in-autosomal-recessive-cerebellar-ataxias/) - Research article: “The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias” Authors: Andreas Traschütz, Selina Reich, Astrid D. Adarmes, Mathieu Anheim, Mahmoud Reza Ashrafi, Jonathan Baets, A. Nazli Basak, Enrico Bertini, Bernard Brais, Cynthia Gagnon, Janina Gburek-Augustat, Hasmet A. Hanagasi, Anna Heinzmann, Rita Horvath, Peter de Jonghe, Christoph
- [6-7 April 2020 | 2nd SCA Global Conference (postponed)](https://ataxia-global-initiative.net/6-7-april-2020-2nd-sca-global-conference/) - Event: 2nd SCA Global Conference Date: 6-7 April 2020 Venue: Bonn, Germany You will find more information on our conference webpages here.
- [6 July 2021 | ERN-RND webinar "Speech as a biomarker in ataxia: What can it tell us and how should we use it?"](https://ataxia-global-initiative.net/6-july-2021-ern-rnd-webinar-speech-as-a-biomarker-in-ataxia-what-can-it-tell-us-and-how-should-we-use-it/) - ERN-RND webinar: "Speech as a biomarker in ataxia: What can it tell us and how should we use it?" Date: 6 July 2021, 3-4pm CET Speaker: Adam Vogel, University of Melbourne, Australia Venue: Zoom (online) Click here to sign up to the webinar. More information about ERN-RND webinars in collaboration with EURO-NMD and the European
- [13 April 2021 | ERN-RND webinar “MR Biomarkers in Spinocerebellar Ataxias”](https://ataxia-global-initiative.net/13-april-2021-ern-rnd-webinar-mr-biomarkers-in-spinocerebellar-ataxias/) - ERN-RND webinar: “MR Biomarkers in Spinocerebellar Ataxias” Date: 13 April 2021, 3-4pm CET Speaker: Gülin Öz, University of Minnesota, Minneapolis, USA Venue: Zoom (online) Click here to sign up to the webinar. More information about ERN-RND webinars in collaboration with EURO-NMD and the European Academy of Neurology (EAN) can be found here.
- [Launch of Critical Path to Therapeutics for the Ataxias (CPTA) Consortium](https://ataxia-global-initiative.net/launch-of-critical-path-to-therapeutics-for-the-ataxias-cpta-consortium/) - The Critical Path to Therapeutics for the Ataxias (CPTA) Consortium was launched at the end of February 2021. As a collaborative effort, this semi private partnership unites C-Path, Ataxia Global Initiative, NAF and Ataxia UK as well as partners in the industry and academic research communities including Biohaven Pharmaceuticals, Ionis Pharmaceuticals, Roche Pharmaceuticals, Servier Group,
- [17-22 September 2021 | MDS Virtual Congress](https://ataxia-global-initiative.net/17-22-september-2021-mds-virtual-congress/) - Event: International Congress of Parkinson’s disease and movement disorders (MDS Virtual Congress) Date: 17-22 September 2021 Venue: Online In light of the COVID-19 pandemic, the MDS Leadership, along with the International Congress Oversight Committee, has decided that for the health and safety of their members, participants and staff, the 2021 International Congress will be taking
- [SCA & ARCA Global Conference 2020 - recorded sessions/flash talks & abstracts](https://ataxia-global-initiative.net/sca-arca-global-conference-recorded-sessions-flash-talks-abstracts/) - The recorded sessions, pre-recorded flash talks and abstracts of the SCA & ARCA Global virtual conference 2020 are now available. Click here to view them.
- [European Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative (ESMI) –lay summary of the results of this 4-year Consortium study](https://ataxia-global-initiative.net/european-spinocerebellar-ataxia-type-3-machado-joseph-disease-initiative-esmi-lay-summary-of-the-results-of-this-4-year-consortium-study/) - You can find the lay summary here.
- [SARA training tool by DZNE](https://ataxia-global-initiative.net/sara-training-tool-by-dzne/) - A SARA training tool has been developed by DZNE (German Center for Neurodegenerative Diseases) to reduce inter-rater variability in all clinical trials using SARA as outcome parameter. The SARA training tool consists of: a tutorial section, SARA training with a library of patient videos and the opportunity to gain certification with 2 years validity Free
- [Research article: "Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3"](https://ataxia-global-initiative.net/research-article-toward-allele-specific-targeting-therapy-and-pharmacodynamic-marker-for-spinocerebellar-ataxia-type-3/) - Research article: "Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3" Authors: Mercedes Prudencio, Hector Garcia-Moreno, Karen R. Jansen-West, Rana Hanna AL-Shaikh, Tania F. Gendron, Michael G. Heckman, Matthew R. Spiegel, Yari Carlomagno, Lillian M. Daughrity, Yuping Song, Judith A. Dunmore, Natalie Byron, Björn Oskarsson, Katharine A. Nicholson, Nathan P. Staff, Sorina
- [14 January 2020 | ERN-RND webinar "inherited ataxias"](https://ataxia-global-initiative.net/14-january-2020-ern-rnd-webinar-inherited-ataxias/) - Event name: ERN-RND webinar "inherited ataxias" Date: 14 January 2020, 15-16h CET Presenter: Paola Giunti, UCL Queen Square Institute of Neurology Audience: Clinical specialists Venue: Zoom (online) Sign up here! Find out more about ERN-RND and ERN EURO-NMD webinars here.
- [25 September 2020 | International Ataxia Awareness Day (IAAD)](https://ataxia-global-initiative.net/25-september-2020-international-ataxia-awareness-day-iaad/)
- [24 November | ERN-RND webinar "Development of Sara-home: a novel assessment tool for patients with ataxia "](https://ataxia-global-initiative.net/24-november-ern-rnd-webinar-development-of-sara-home-a-novel-assessment-tool-for-patients-with-ataxia/) - Webinar: “Development of Sara-home: a novel assessment tool for patients with ataxia ” Date: 24 November, 3-4pm CET Speakers: Gessica Vasco & Susanna Summa, Ospedale Pediatrico Bambino Gesù, Rome, Italy Venue: Zoom (online) You can sign up here. More information about ERN-RND webinars in collaboration with EURO-NMD and the European Academy of Neurology (EAN) can
- [Research article: "Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study"](https://ataxia-global-initiative.net/research-article-conversion-of-individuals-at-risk-for-spinocerebellar-ataxia-types-1-2-3-and-6-to-manifest-ataxia-risca-a-longitudinal-cohort-study/) - Article name: "Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study" Authors: Heike Jacobi, Sophie Tezenas du Montcel, Sandro Romanzetti, Florian Harmuth, Caterina Mariotti, Lorenzo Nanetti, Maria Rakowicz, Grzegorz Makowicz, Alexandra Durr, Marie-Lorraine Monin, Alessandro Filla, Alessandro Roca, Ludger Schöls, Holger Hengel,
- [ARCA Global Conference POSTPONED](https://ataxia-global-initiative.net/arca-global-conference-cancelled/) - Unfortunately this meeting had to be cancelled to prevent possible spread of the Covid-19 virus. It will be rescheduled in due time. Please note that the 2020 Annual Ataxia Conference has also been cancelled. You will find more information about the NAF meeting here. Event name: 1st ARCA Global Conference Date: 2-3 March 2020 Venue:
- [10 November 2020 | ERN-RND webinar "Rehabilitation in ataxia: current evidence and practice"](https://ataxia-global-initiative.net/10-november-2020-ern-rnd-webinar-rehabilitation-in-ataxia-current-evidence-and-practice/) - Event: ERN-RND webinar "Rehabilitation in ataxia: current evidence and practice" Speaker: Ludger Schöls, University of Tübingen, Germany & ERN-RND clinical coordinator Date: 10 November, 3-4pm CET Venue: Online, register here Find out more about ERN-RND webinars here. -- The European Reference Network for Rare Neurological Diseases (ERN-RND) is a virtual network of expert European hospitals
- [3 November 2020 | ERN-RND webinar "Non-invasive stimulation for ataxias"](https://ataxia-global-initiative.net/3-november-2020-ern-rnd-webinar-non-invasive-stimulation-for-ataxias/) - Event: ERN-RND webinar "Non-invasive stimulation for ataxias" Speaker: Bart van de Warrenburg, Radboud University Medical Centre, Nijmegen, Netherlands Date: 3 November, 3-4pm CET Venue: Online, register here Find out more about ERN-RND webinars here. The European Reference Network for Rare Neurological Diseases (ERN-RND) is a virtual network of expert European hospitals working together to improve
- [24 November 2020 | ERN-RND webinar "Development of Sara-home: a novel assessment tool for patients with ataxia"](https://ataxia-global-initiative.net/24-november-2020-ern-rnd-webinar-development-of-sara-home-a-novel-assessment-tool-for-patients-with-ataxia/) - Event: ERN-RND webinar "Development of Sara-home: a novel assessment tool for patients with ataxia" Speakers: Gessica Vasco & Susanna Summa, Ospedale Pediatrico Bambino Gesù, Rome, Italy Date: 24 November, 3-4pm CET Venue: Online, register here Find out more about ERN-RND webinars here. The European Reference Network for Rare Neurological Diseases (ERN-RND) is a virtual network
- [19-21 October 2020 | SCA & ARCA Global Conference](https://ataxia-global-initiative.net/19-21-october-2020-sca-arca-global-conference-3/) - Event: SCA & ARCA Global Conference Date: 19-21 October 2020 Venue: Online The SCA Global and the ARCA Global Conferences which were planned to take place earlier in March respectively in Bonn, Germany and in Denver, USA had to be cancelled due to the COVID-19 pandemic. Conference organisers have decided to organise a joint ONLINE
- [SCA & ARCA Global Conference 2020 moves online!](https://ataxia-global-initiative.net/sca-arca-global-conference-2020-moves-online/) - After having had to cancel their respective conference due to the COVID-19 pandemic, SCA Global & ARCA Global have decided to jointly organise one conference which will take place online. Event name: SCA & ARCA Global Conference 2020 Date: 19-21 October 2020 Venue: Online Details about the conference will follow soon. Please check this webpage
- [2-3 March 2020 | 1st ARCA Global Conference - CANCELLED](https://ataxia-global-initiative.net/2-3-march-2020-1st-arca-global-conference/) - The organisers of the conference have now decided to go online: the ARCA Global Conference has now been moved to an online conference and will be organised jointly with the SCA Global Initiative. It will take place online from 19-21 October 2020. More info will follow soon! Please check this webpage for upcoming updates. ---
- [Report - First SCA Global Conference](https://ataxia-global-initiative.net/report-first-sca-global-conference/) - Conference information The first conference of the SCA Global initiative was held in Las Vegas from 27 to 29 March 2019. Researchers from around the world, industry and patient organizations have formed a global collaboration in clinical research efforts for Spinocerebellar Ataxias (SCA). SCA Global was created to address the obstacles that clinical investigators are
- [3-6 March 2020 | NAF's Ataxia Investigators meeting - CANCELLED](https://ataxia-global-initiative.net/3-6-march-2020-nafs-ataxia-investigators-meeting/) - Unfortunately this meeting had to be cancelled to prevent possible spread of the Covid-19 virus. You will find more information about this on the NAF webpage here. We sincerely apologize for the inconvenience caused. Event: Ataxia Investigators meeting of the National Ataxia Foundation (NAF) Date: 3-6 March 2020 Venue: Sheraton Denver Downtown, USA Launched
- [27-29 March 2019 | 1st SCA Global Conference](https://ataxia-global-initiative.net/27-29-march-2019-1st-sca-global-conference/) - Event name: 1st SCA Global Conference Date: 27-29 March 2019 Venue: Flamingo Hotel and Casino in Las Vegas, NV, U.S.A. The goal of the first SCA Global Conference was to assemble a global consortium for clinical studies of the spinocerebellar ataxias (SCAs). CONFERENCE PROGRAMME Please find the programme of the conference here. Conference sponsors
- [20 – 21 September 2019 | 6th International Meeting on Spastic Paraparesis and Ataxia](https://ataxia-global-initiative.net/20-21-september-2019-6th-international-meeting-on-spastic-paraparesis-and-ataxia/) - Event name: 6th International Meeting on Spastic Paraparesis and Ataxia Date: 20-21 September 2019 Venue: Acropolis – Palais des congrès, Nice, France Scientific committee: Sylvia Boesch (Austria), Alexandra Durr (France, ERN-RND member), Filippo Santorelli (Italy), Giovanni Stevanin (France), Matthis Synofzik (Germany, ERN-RND member), Chantal Tallaksen (Norway), Bart Van de Warrenburg (Netherlands, ERN-RND member) More information
- [14-16 November 2019 | International Ataxia Research Conference (IARC) 2019](https://ataxia-global-initiative.net/14-16-november-2019-international-ataxia-research-conference-iarc-2019/) - Event name: International Ataxia Research Conference (IARC) 2019 Date: 14-15-16 November 2019 Venue: Washington, DC, U.S.A Information: this conference will provide a comprehensive scientific review of new research into ataxias, covering topics from the molecular basis of disease to potential therapeutic treatments and clinical trials. The conference will include Friedreich’s ataxia and other recessive ataxias

## Pages

- [Ataxia Global Initiative](https://ataxia-global-initiative.net/) - The Ataxia Global Initiative (AGI) is a worldwide research platform that has the goal to facilitate the clinical development of therapies for ataxias.
- [Ataxia Advisory Committee for Therapeutics](https://ataxia-global-initiative.net/resources/ataxia-act/) - The Ataxia Advisory Committee for Therapeutics (Ataxia ACT) aims to optimize the planning and execution of preclinical and clinical drug development programs for (all forms of) ataxias. Ataxia ACT provides confidential, unbiased, multi-stakeholder and multidisciplinary expert advice to optimize therapy development, by either a) steering studies along a realistic and well-informed plan to clinical trial/later
- [AGI Industry Meeting](https://ataxia-global-initiative.net/events/agi-industry-meeting/) - AGI industry meeting takes place twice a year and is for all companies interested or active in ataxias. The purpose of the AGI industry meetings is to update industry on the AGI developments and plans as well as to engage industry participants in AGI activities. Upcoming AGI Industry Meeting tba Home About SCA
- [AGI Webinar Series „Preventive Trials for SCAs”](https://ataxia-global-initiative.net/events/preventive-trials/) - Ataxia Global Initiative has developed a new webinar series focused on preventive trials in the spinocerebellar ataxias (SCAs). Preventive approaches are the next logical step in ataxia research, building on advances in understanding pre-ataxic disease stages and early biomarkers. This concept has already been successfully explored in other neurodegenerative diseases, and the series aims
- [AGI Regional Conference in Latin America](https://ataxia-global-initiative.net/events/agi-regional-conference-in-latin-america/) - The AGI Regional Conference which took place on 7 May 2026 represented the first regional meeting organized by the Ataxia Global Initiative (AGI). The conference successfully served as an important forum for researchers and clinicians dedicated to hereditary ataxias in Latin America. Watch the video on YouTube (You can find the slides to the talks
- [AGI Newsletters](https://ataxia-global-initiative.net/news-menu/newsletters/) - Newsletter April 2026 Newsletter February 2026 Newsletter October 2025 Newsletter June 2025 Newsletter April 2025 Newsletter January 2025 Newsletter September 2024 Newsletter July 2024 Newsletter May 2024 Newsletter March 2024 Newsletter January 2024 Newsletter September 2023 Newsletter July 2023 Newsletter May 2023 Newsletter March 2023 Newsletter December 2022 Newsletter October 2022 Newsletter September 2022 Newsletter
- [AGI Ataxia Expert Masterclass](https://ataxia-global-initiative.net/events/agi-expert-masterclass/) - The first AGI Ataxia Expert Masterclass on Spinocerebellar Ataxias (SCAs), was held online on 21–23 April 2026, bringing together leading international experts to address genetics, disease mechanisms, and trial readiness in SCAs. Program Committee Giulia Coarelli (Paris, France) Jennifer Faber (Bonn, Germany) Holm Graessner (Tübingen, Germany) Heike Jacobi (Heidelberg, Germany) Thorsten Schmidt (Tübingen, Germany) Content:
- [Steering Committee](https://ataxia-global-initiative.net/governance/steering-committee/) - The Steering Committee is responsible for providing overall policy and strategic direction to the AGI, oversees activities and progress, and delegates responsibility for day-to-day operations to the AGI office and chairs of the various Working Groups. The current Steering Committee of the Ataxia Global Initiative consists of the following members: Chair: Thomas Klockgether (Bonn, Germany)
- [SARA Training Tool](https://ataxia-global-initiative.net/resources/sara-training-tool/) - AGI members can get access to SARA Training Tool by applying at the DZNE (AGI membership certificate needed). After the application process, you will receive a SARA Training Tool account for the period of your AGI membership. Apply for SARA Training Tool Access Here: DECLARE - DZNE Clinical Research E-Learning Platform > SARA Training Tool
- [#1 Clinical outcome assessments & registries](https://ataxia-global-initiative.net/working-groups/working-group-1/) - Working Group 1 WG Name Clinical outcomes assessments & registries WG Leads Thomas Klockgether (Bonn, Germany) Matthis Synofzik (Tübingen, Germany) WG Objectives Define a set of data including a graded catalogue of COAs that will serve as the standard for future sharing of clinical data and joint clinical studies. To keep the hurdles for contribution
- [#7 Policy and patient organization engagement](https://ataxia-global-initiative.net/working-groups/working-group-7/) - Working Group 7 WG Name Policy and patient organization engagement WG Leads Julie Greenfield (Ataxia Research UK, UK) Holm Graessner (Tübingen, Germany) WG Objectives Facilitate cooperation with other stakeholders Establish trial readiness services including training measures Provide guidance on key activities of AGI such as data and biomaterial sharing Results MoU with C-Path focused on
- [AGI YII webinar series](https://ataxia-global-initiative.net/about-the-young-investigator-initiative/yii-education-and-training/agi-yii-webinar-series/) - Second AGI YII Webinar Series The topic of the second webinar series of the Ataxia Global Young Investigator Initiative is iScience: AGI YII Webinar Series on Hot Topics Explore Your Future in Ataxia Research Target audience: young investigators in the ataxia field, who we hope to give a head start in their career by introducing
- [Events](https://ataxia-global-initiative.net/events/) - Home About SCA ARCA Governance Charter Membership Partnership Steering Committee Ataxia Global Initiative Office Working Groups #1 Clinical outcome assessments & registries #2 Molecular biomarkers & biosampling #3 MRI biomarkers #4 Digital-motor biomarkers #5 Model systems & preclinical trials #6 Next-generation genomics & platforms #7 Policy and patient organization engagement #8 Patient-reported experience & outcome
- [AGI Patient Organization Meeting](https://ataxia-global-initiative.net/events/agi-pao-meeting/) - Home About SCA ARCA Governance Charter Membership Partnership Steering Committee Ataxia Global Initiative Office Working Groups #1 Clinical outcome assessments & registries #2 Molecular biomarkers & biosampling #3 MRI biomarkers #4 Digital-motor biomarkers #5 Model systems & preclinical trials #6 Next-generation genomics & platforms #7 Policy and patient organization engagement #8 Patient-reported experience & outcome
- [Projects](https://ataxia-global-initiative.net/projects/) - AGI projects are projects proposed by AGI members and endorsed by the Steering Committee. They should present first project ideas for strongly collaborative, genuine Ataxia Global projects, and should be translational in character, focussing on trial-readiness. Would you like to submit a project? Please send your project proposal to ataxiaglobaloffice[at]med.uni-tuebingen.de using this template. Please note
- [AGI Trial Site Registry](https://ataxia-global-initiative.net/resources/agi-trial-site-registry/) - Access to AGI Trial Site Registry for Sites AGI-TSR is an online database of specialized sites that see patients with ataxias. It holds site-level information relevant to clinical studies, including trial experience, information on personnel, facilities, and ataxia patient populations at the participating sites around the globe in a readily available, standardized fashion. It does
- [Ataxia Advisory Committee for Therapeutics](https://ataxia-global-initiative.net/resources/ataxia-act-summaries/) - Public Summaries of Past Applications for Advice from the Ataxia Advisory Committee for Therapeutics (Ataxia ACT) Ataxia ACT plays a vital role in supporting the development of therapies by providing expert guidance on trial readiness for ataxia. While full reports are shared only with the applicants, sharing non-confidential summaries helps foster transparency and progress in
- [Working Groups](https://ataxia-global-initiative.net/working-groups/) - #1 Clinical outcome assessments & registries WG leads: Thomas Klockgether and Matthis Synofzik #2 Molecular biomarkers & biosampling WG leads: Liana Rosenthal, Giulia Coarelli, and Andrea Cortese #3 MRI biomarkers WG leads: Jennifer Faber and Pierre-Giles Henry #4 Digital-motor biomarkers WG leads: Andreas Traschütz and Adam Vogel #5 Model systems & preclinical trials WG leads:
- [#2 Molecular biomarkers & biosampling](https://ataxia-global-initiative.net/working-groups/working-group-2/) - Working Group 2 WG Name Molecular biomarkers & biosampling WG Leads Liana Rosenthal (Baltimore, US) Giulia Coarelli (Paris, France) Andrea Cortese (London, UK) WG Objectives Facilitate inclusive and feasible cross-center standardized biosampling. Generate a centralized biomaterial database to store and readily query information on availability and type of biomaterial. Establish procedures for approval of biomaterial
- [#3 MRI biomarkers](https://ataxia-global-initiative.net/working-groups/working-group-3/) - Working Group 3 WG Name MR biomarkers WG Leads Jennifer Faber (Bonn, Germany) Pierre-Gilles Henry (Minnesota, USA) WG Objectives To harmonize magnetic resonance imaging (MRI) and spectroscopy (MRS) data acquisition protocols across centers to further understand natural history and future treatment options for SCAs and ARCAs. To provide guidelines for core and advanced MRI/MRS protocols
- [Membership](https://ataxia-global-initiative.net/governance/membership/) - Members are individual persons who could be ataxia researchers (academic or industry-based) and clinical investigators, ataxia clinicians, representatives of patient organizations or further persons with a proven professional interest in ataxia therapy development. Ataxia patients and their representatives without a professional involvement do not receive AGI membership. Please see the lists of patient organizations in
- [Partnership](https://ataxia-global-initiative.net/governance/partnership/) - Partners are organisations including industry and patient organisations. AGI partnership is not limited to legal entities and may include companies, patient organisations, patient support groups, foundations, academic institutions and research consortia. Read more about partnership in the AGI charter (Article 3). To apply for partnership, fill out this form. Home About SCA ARCA Governance Charter
- [Training Curriculum](https://ataxia-global-initiative.net/about-the-young-investigator-initiative/yii-education-and-training/) - For an ataxia training curriculum, young ataxia researchers are welcome to attend following training programs: I. AGI YII Webinar series AGI Young Investigator Initiative offers a Young Investigator Webinar Series on basic concepts from each AGI Working Group. Find more information here: AGI YII Webinar series See past webinars on our YouTube channel II. ERN-RND
- [Massachusetts General Hospital Ataxia Center Noon Conference](https://ataxia-global-initiative.net/about-the-young-investigator-initiative/yii-education-and-training/massachusetts-general-hospital-ataxia-center-noon-conference/) - The Massachusetts General Hospital Ataxia Center holds a noon conference on the 1st, 3rd, (and 5th) Thursday of every month, from noon to 1 pm, Eastern Standard Time (Boston). In these conferences, there is usually a case presentation and patient examination, followed by discussion of the clinical and basic science. If you would like to
- [Young investigator initiative](https://ataxia-global-initiative.net/working-groups/young-investigator/) - WG Name Young Investigators Initiative WG Leads Jennifer Faber (Bonn, Germany) Heike Jacobi (Heidelberg, Germany) WG Objectives The Young Investigator Initiative (YII) was formed within the framework of SCA Global as a platform for scientific exchange amongst young researchers and for education and training purposes. The idea is to assure high quality of clinical assessments
- [#8 Patient-reported experience & outcome measures](https://ataxia-global-initiative.net/working-groups/8-preo/) - Working Group 8 WG Name Patient-reported experience & outcome measures WG Leads Tanja Schmitz-Hübsch (Charité Universitätsmedizin Berlin, Germany) Bart-Jan Schuman (Friedreich Ataxie Förderverein e.V.; Germany) WG Objectives This WG aims to promote the role of patient report in the assessment and trials of ataxia. The prioritary aim is to define a graded catalogue of patient-reported
- [Charter](https://ataxia-global-initiative.net/governance/charter/) - In their meeting of 9 June 2021, the Steering Committee approved the AGI Charter (the 2nd version of the charter has been amended and approved on 18 September 2024). The charter means to formalize the activities of the AGI and set out guidelines for its members and partners. You can read the charter here: AGI
- [AGI’s Tools & Methods studio series](https://ataxia-global-initiative.net/events/agi-tm-studioseries/) - AGI studios are not “ready-to-digest presentations”, but instead aim to provide an active, joint open discussion format for hard-to-crack methodological key bottlenecks in the ataxia trial-readiness field, where potential first approaches towards solutions are to be developed jointly by all attendees (rather than ready-made by the presenter and/or moderator). Home About SCA ARCA
- [ERN-RND Ataxia Webinars](https://ataxia-global-initiative.net/resources/ern-rnd-ataxia-webinars/) - ERN-RND provides free educational webinars on rare neurological and neuromuscular diseases - in collaboration with the European Reference Network for Rare Neuromuscular Diseases (EURO-NMD) and the European Academy of Neurology (EAN). The goal is to share knowledge on rare neurological, movement and neuromuscular disorders via a series of webinars presented by expert members of both
- [#5 Model systems & preclinical trials](https://ataxia-global-initiative.net/working-groups/working-group-5/) - Working Group 5 WG Name Model systems & preclinical trials WG Leads Magda Santana (Coimbra, Portugal) Ronald Buijsen (Leiden, the Netherlands) Jeannette Hübener-Schmid (Tübingen, Germany) Thorsten Schmidt (Tübingen, Germany) WG Objectives The main goal of this working group is the standardization of preclinical research that is essential to establish trial-readiness for ataxias. These will include
- [AGI program on the development of a generally accepted ataxia rating scale](https://ataxia-global-initiative.net/events/ataxia-rating-scale/) - AGI members and invited external experts including C-Path met in Bonn on Jan 24th and 25th 2023 to kick-off the AGI program on the development of a generally accepted ataxia rating scale. After two days of discussion, consensus on the assessment of the current state of the art, unmet needs and work program could be
- [About](https://ataxia-global-initiative.net/about/) - AGI is a worldwide research platform that has the goal to facilitate the clinical development of therapies for ataxias. Home About SCA ARCA Governance Charter Membership Partnership Steering Committee Ataxia Global Initiative Office Working Groups #1 Clinical outcome assessments & registries #2 Molecular biomarkers & biosampling #3 MRI biomarkers #4 Digital-motor biomarkers #5 Model systems
- [Imprint&Disclaimer](https://ataxia-global-initiative.net/imprint/) - Imprint Ataxia Global Initiative Center for Rare Diseases University Hospital Tübingen Calwerstr. 7 72076 Tübingen Germany Representative Dr. Holm Graessner Center for Rare Diseases University Hospital Tübingen Calwerstr. 7 72076 Tübingen Germany Phone +49 (0)7071-2985944 holm.graessner(at)med.uni-tuebingen.de DISCLAIMER Limitation of liability for internal content The content of our website has been compiled with meticulous care and
- [SCAview](https://ataxia-global-initiative.net/resources/sca-view/) - SCAview is an output of the AGI working group 8 Young Investigator Initiative and is available for AGI members (apply for AGI membership). AGI members can get access to SCAview by filling out this form. After the application process, you will receive a SCAview account for the time of your AGI membership. Description The main
- [Resources](https://ataxia-global-initiative.net/resources/) - Home About SCA ARCA Governance Charter Membership Partnership Steering Committee Ataxia Global Initiative Office Working Groups #1 Clinical outcome assessments & registries #2 Molecular biomarkers & biosampling #3 MRI biomarkers #4 Digital-motor biomarkers #5 Model systems & preclinical trials #6 Next-generation genomics & platforms #7 Policy and patient organization engagement #8 Patient-reported experience & outcome
- [IDEA-Instrumented Data Exchange for Ataxia](https://ataxia-global-initiative.net/projects/idea-instrumented-data-exchange-for-ataxia/) - Goal: - Test the hypothesis that our new digital composite score (potential biomarker), combining body-worn sensor measures of sway and gait, will correlate with the SARA and patient-report outcome measures in diverse populations across the world. Description: The hereditary ataxias, which include both autosomal dominant spinocerebellar ataxias (SCAs) and autosomal recessive ataxias (ARCAs), are a
- [News](https://ataxia-global-initiative.net/news-menu/news/) - AGI program on the development of a generally accepted ataxia rating scale 4 & 5 November 2022 | Ataxia Global Conference, Dallas, TX, USA February 21, 2023 Viewpoint: “Paving the Way Toward Meaningful Trials in Ataxias: An Ataxia Global Initiative Perspective” April 29, 2022 AGI symposium – 22 & 23 November 2021 – online March
- [Past events](https://ataxia-global-initiative.net/events/past-conferences/) - 4 & 5 November 2022 | Ataxia Global Conference, Dallas, TX, USA February 21, 2023 AGI symposium – 22 & 23 November 2021 – online March 20, 2022 14 December 2021 | AGI YII Webinar: “Magnetic resonance imaging in clinical care and research of ataxias” December 14, 2021 22 & 23 November 2021 | AGI
- [Members of the Young Investigator Initiative](https://ataxia-global-initiative.net/about-the-young-investigator-initiative/members-of-sca-global-yii/) - Member Email address Affiliation Matthias Amprosi matthias.amprosi[at]i-med.ac.at Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria Merve Aydin Merve.aydin[at]ukbonn.de Department of Neurology, University Hospital Bonn & German Center for Neurodegenerative Diseases, Bonn, Germany Arwa Babai arwababai[at]gmail.com University of Karthoum, Karthoum, Sudan Gabriela Bolzan gabriela.bolzan[at]ufrgs.br Universidade Federal do Rio Grande do Sul, Porto Algere, Brazil David
- [Young Investigator Travel Award 2022](https://ataxia-global-initiative.net/about-the-young-investigator-initiative/young-investigator-travel-award-2022/) - Aim The Ataxia Global Initiative (AGI) offers to provide up to 2,000 USD travel support for three young investigators to attend the Ataxia Global Conference and the International Congress for Ataxia Research (ICAR) in Dallas, TX, USA, November 2022. The three eligible young investigators (2 non-US and 1 US) are committed to ataxia research and
- [SCAsource](https://ataxia-global-initiative.net/resources/scasource/) - SCAsource is a website where research on ataxias is written in plain language by scientists. The goal of SCAsource is to make research more readily accessible and understandable to ataxia patients and families. SCAsource is entirely run by volunteers, primarily graduate students and post-doctoral fellows. Project coordinators are Celeste Suart and Dr. Hayley McLoughlin. AGI aims
- [AGI symposium 2021](https://ataxia-global-initiative.net/events/agi-symposium-2021/) - AGI symposium - 22 & 23 November 2021 - online The first Ataxia Global Initiative Symposium took place on 22 & 23 November this year. Title: 'Getting ready for clinical trials' (with keynote talks on clinical trials and the talks on the topics from AGI projects and working groups). Program Abstract book Sponsored by: Home
- [Ataxia Global Initiative Office](https://ataxia-global-initiative.net/governance/ataxia-global-initiative-office/) - Located in Tübingen, Germany, the AGI office is responsible for the AGI project management. It provides administrative as well as communications support (website, newsletter, social media, etc.) to the Steering Committee and the AGI members. You can reach us via this email address: ataxiaglobaloffice [at] med.uni-tuebingen.de. Home About SCA ARCA Governance Charter Membership Partnership Steering
- [Worldwide evaluation of PROM ataxia in genetic ataxias](https://ataxia-global-initiative.net/projects/worldwide-evaluation-of-prom-ataxia-in-genetic-ataxias/) - Goals: - Make PROM Ataxia available in more languages - Assess PROM Ataxia longitudinally and across genetic disease types and severities in a multicenter setting worldwide Description: Inherited ataxias are neurodegenerative diseases with prominent ataxia that lead to progressive disability during the disease course. In the last years, considerable progress has been made in characterizing
- [CSF levels of poly(ADP-ribose) as a biomarker for monitoring DNA strand breaks and neurological dysfunction in polyglutamine SCAs](https://ataxia-global-initiative.net/projects/csf-levels-of-polyadp-ribose-as-a-biomarker-for-monitoring-dna-strand-breaks-and-neurological-dysfunction-in-polyglutamine-scas/) - Goal: - Collect CSF in participants with AT, ATLD, AOA1, AOA2, and several mitochondrial ataxias (ARSACS, SPG7, POLG), and development of an ELISA based method for quantification of PARylated CSF protein. Description: Recent work has sought to cluster ARCAs more broadly based on underlying pathobiological mechanisms (reviewed in Synofzik et al. Neuron 2019) into those
- [Identifying new repeat expansions and structural variants in autosomal dominant cerebellar ataxias](https://ataxia-global-initiative.net/projects/identifying-new-repeat-expansions-and-structural-variants-in-autosomal-dominant-cerebellar-ataxias/) - Goal: - Elucidate the genetic cause of "unsolved" ADCA patients and identify new genes and pathomechanisms of ADCAs. Description: About 30 - 50% of all autosomal dominant cerebellar ataxias (ADCA) remain without a genetic diagnosis despite whole-exome sequencing. With this project, we want to elucidate the genetic cause of these "unsolved" patients and identify new
- [#6 Next-generation genomics & platforms](https://ataxia-global-initiative.net/working-groups/working-group-6/) - Working Group 6 WG Name Next-generation genomics and platforms WG Leads Brent Fogel (Los Angeles, USA) Andrea Nemeth (Oxford, UK) Matthis Synofzik (Tübingen, Germany) Stephan Zuchner (Miami, USA) The goal of this working group is to identify and enrich genetically stratified ataxia patients for trial-readiness natural history studies and treatment trials. This will be achieved
- [#4 Digital-motor biomarkers](https://ataxia-global-initiative.net/working-groups/working-group-4/) - Working Group 4 WG Name Digital-motor biomarkers WG Leads Andreas Traschütz (Tübingen, Germany) Adam Vogel (Melbourne, Australia) WG Objectives Establishing standards for aggregating digital-motor (sensors, video, audio, etc.) datasets in genetic ataxias, harmonized by cross-center standardized assessment protocols, for identification of digital-motor biomarkers in SCAs and ARCAs. This includes, but is not limited to Assessment
- [Young Investigator Initiative (YII)](https://ataxia-global-initiative.net/about-the-young-investigator-initiative/yii/) - It is often challenging for junior researchers to get an overview in the field of a rare disease like ataxia. The Young Investigator Initiative (YII) was initiated by Heike Jacobi and Jennifer Faber and formed within the framework of SCA Global as a platform for scientific exchange amongst young researchers and for education and training purposes. The idea is
- [RFC1: a global multicenter multimodal natural history, clinical outcome and biomarker study, based on the ARCA registry](https://ataxia-global-initiative.net/projects/rfc1-a-global-multicenter-multimodal-natural-history-clinical-outcome-and-biomarker-study-based-on-the-arca-registry/) - Goal: - Chart the prospective feature evolution and longitudinal natural history of RFC1 disease Description: Following their recent discovery, repeat expansions in RFC1 are already by now appreciated as one of the most frequent causes of recessive ataxia worldwide, thus presenting a major novel disease target for highly warranted therapies. To prepare future treatment trials
- [Contact](https://ataxia-global-initiative.net/contact/) - Ataxia Global Initiative Office Institute of Medical Genetics and Applied Genomics Calwerstr. 7 72076 Tübingen Germany E-Mail: ataxiaglobaloffice [at] med.uni-tuebingen.de
- [Young Investigator Initiative (YII)](https://ataxia-global-initiative.net/about-the-young-investigator-initiative/) - It is often challenging for junior researchers to get an overview in the field of a rare disease like ataxia. The Young Investigator Initiative (YII) was initiated by Heike Jacobi and Jennifer Faber and formed within the framework of SCA Global as a platform for scientific exchange amongst young researchers and for education and training purposes. The idea is
- [News](https://ataxia-global-initiative.net/news-menu/) - Our latest news and important announcements in our newsletters. Home About SCA ARCA Governance Charter Membership Partnership Steering Committee Ataxia Global Initiative Office Working Groups #1 Clinical outcome assessments & registries #2 Molecular biomarkers & biosampling #3 MRI biomarkers #4 Digital-motor biomarkers #5 Model systems & preclinical trials #6 Next-generation genomics & platforms #7 Policy
- [Governance](https://ataxia-global-initiative.net/governance/) - The activities of the AGI are formalized by its charter, which also sets out guidelines for the members and partners of AGI. Applications for membership and partnership can be submitted via the respective pages. The AGI Steering Committee is responsible for providing overall policy and strategic direction to the AGI, oversees activities and progress, and
- [NAF Travel Award 2020](https://ataxia-global-initiative.net/about-the-young-investigator-initiative/naf-travel-award/) - Together with the National Ataxia Foundation (NAF) we organized a travel grant award for young researchers and clinicians without funding to offer them the opportunity to attend the SCA Global conference 2020 in Bonn, which unfortunately had to be postponed due to the COVID-19 pandemic. The following 3 outstanding young investigators were selected by the SCA
- [Program](https://ataxia-global-initiative.net/events/agi-symposium-2021/programme/) - Monday 22 November 2021 Session 1: Genetics & New Targets/Pathways 14.00 - 14.05 CET: Welcome 14.05 - 14.35: Keynote lecture: "Challenges and opportunities in ataxia genomics” Stephan Züchner (University of Miami) 14.35 - 14.55: AGI Working Groups - WG6: Next-generation ataxia genomics and platforms Matthis Synofzik (University of Tübingen) 14.55 - 15.15: AGI Projects -
- [PROSPAX: an integrated multimodal progression chart in spastic ataxias (ARSACS, SPG7)](https://ataxia-global-initiative.net/projects/prospax-an-integrated-multimodal-progression-chart-in-spastic-ataxias-arsacs-spg7/) - Goal: - In a 2-year transatlantic natural history study of each ARSACS and SPG7 we will longitudinally validate clinician- and patient-reported, digital and molecular outcomes. Description: Spastic ataxias (SPAX) present an expanding group of >100 rare neurodegenerative diseases with joined damage of cerebellum and corticospinal tract (CST). While rapid genetic stratification facilitates current development of
- [AGI YII webinar series](https://ataxia-global-initiative.net/resources/agi-yii-webinar-series/) - In the first webinar series of the Ataxia Global Young Investigator Initiative, each AGI Working Group will present an introduction into their topic. Target audience: young investigators in the ataxia field, who we hope to give a head start in their career by introducing important aspects of various research topics. Of course, anyone who is
- [Massachusetts General Hospital Ataxia Center Noon Conference](https://ataxia-global-initiative.net/resources/massachusetts-general-hospital-ataxia-center-noon-conference/) - The Massachusetts General Hospital Ataxia Center holds a noon conference on the 1st, 3rd, (and 5th) Thursday of every month, from noon to 1 pm, Eastern Standard Time (Boston). These conferences went virtual at the start of the global pandemic in the spring of 2020 and have become a hub for ongoing consideration through the
- [Interaction between genes, caffeine and tobacco use as factors for the onset of Machado-Joseph disease/Spinocerebellar Ataxia Type 3](https://ataxia-global-initiative.net/projects/interaction-between-genes-caffeine-and-tobacco-use/) - Goal: - Compare consumption habits (caffeine, tobacco and others) in different SCA3/MJD populations and to study the possible role of these factors on the modulation of age of onset in SCA3 / MJD. Description: The expanded CAG repeat at ATXN3 is the unique cause of spinocerebellar ataxia (SCA) type 3, also known as Machado-Joseph disease
- [PAHAN survey: access of patients with hereditary ataxias to diagnosis and management in the American continents and the Caribbean](https://ataxia-global-initiative.net/projects/pahan-survey/) - Goal: - Define access of patients with hereditary ataxias (HA) to diagnosis and management in (Latin) America Description: Pan American Hereditary Ataxia Network (PAHAN) proposes to perform a survey among neurologists and geneticists from American countries, especially those from Latin America, to define what is the access of patients with hereditary ataxias (HA) to diagnosis
- [Stem cell models of ARCAs to understand pathogenic, therapeutically tractable mechanisms](https://ataxia-global-initiative.net/projects/stem-cell-models-of-arcas/) - Goal: - Generate mutations of a wide variety of ARCA genes in H9 stem cells. These cells will provide a resource which can be shared collaboratively with other laboratories for downstream analysis. Description: The underlying molecular pathogenic mechanisms in many ARCAs remain unclear. Recent technological advances have enabled the differentiation of pluripotent human stem cells
- [SCA & ARCA Global Conference 2020](https://ataxia-global-initiative.net/events/sca-arca-global-conference-2020/) - The SCA Global Conference originally planned to take place from 6-7 April 2020 in Bonn, Germany was moved to an online conference and organised jointly with the ARCA Global initiative. The SCA & ARCA Global Conference took take place online from 19-21 October 2020. For further information see the pages below. Programme & recorded sessions
- [Ataxia scales training](https://ataxia-global-initiative.net/about-the-young-investigator-initiative/yii-education-and-training/ataxia-scales-training/) - A central part of the first Young Investigator Initiative Event at the SCA and ARCA Global online conference in October 2020 was the ataxia scales training. We are planning to offer ataxia scales trainings at all relevant ataxia conferences. Scale for the Assessment and Rating of Ataxia (SARA) The online SARA Training Tool includes: tutorial section with
- [ARCA](https://ataxia-global-initiative.net/about/arca/) - Autosomal-recessive cerebellar ataxias (ARCA) comprise a heterogeneous group of rare degenerative and metabolic genetic diseases that share the common hallmark of progressive damage of the cerebellum and its associated tracts, often complicated by substantial additional multisystemic neuronal and non-neuronal damage. Recent next-generation sequencing techniques have allowed to identify a rapidly increasing number of novel ARCA
- [SCA](https://ataxia-global-initiative.net/about/sca/) - The spinocerebellar ataxias (SCAs) are a group of autosomal dominantly inherited progressive ataxia disorders. More than 40 genetically different SCAs have been defined that mostly follow the nomenclature of SCA followed by a number, except DRPLA. The most common – SCA1, SCA2, SCA3 and SCA6, which together affect more than half of all families with
- [Speech-ATAXIA: a multinational, multilanguage consortia for speech in hereditary ataxias](https://ataxia-global-initiative.net/projects/speech-ataxia-a-multinational-multilanguage-consortia-for-speech-in-hereditary-ataxias/) - Goals: - Precisely describe longitudinal changes occurring in speech as disease progresses, - Identify predictors of progression and discover if critical milestones exist in the disease course, - Explore how communication decline shapes quality of life and disease management, - Strengthen genotype-phenotype associations to create disease specific profiles. Description: Speech impairment is ubiquitous in ataxia
- [The upper limb cardiopulmonary exercise test in autosomal recessive ataxias](https://ataxia-global-initiative.net/projects/the-upper-limb-cardiopulmonary-exercise-test-in-autosomal-recessive-ataxias/) - Goal: - Explore the feasibility of upper limbs CPET in patients with autosomal recessive ataxias with putative mitochondrial disfunction, and to compare the results with sex, age and BMI matched healthy controls Description: There are no validated markers that allow for an in-vivo evaluation of mitochondrial functionality in patients with autosomal recessive ataxias. The cardiopulmonary
- [Functional characterization and rehabilitative approach on rare autosomal recessive ataxias](https://ataxia-global-initiative.net/projects/functional-characterization-and-rehabilitative-approach-on-rare-autosomal-recessive-ataxias/) - Goals: - Characterize the functioning profile of rare autosomal recessive ataxias and test and validate goal oriented rehabilitative protocols. Description: These rare/ultrarare conditions risk to be left orphan of a goal orienteed and evidence based rehabilitative approach: the only intervention now being usually delivered. If data are pooled together and results confronted among clinics around
- [SARAglobal: Development and validation of an improved version of SARA](https://ataxia-global-initiative.net/projects/saraglobal-development-and-validation-of-an-improved-version-of-sara/) - Goals: - Analysis of clinical relevance and metric properties of SARA - Design of an improved SARA version - Validation of modified items Description: SARA is the primary clinical outcome in the majority of observational studies and in many interventional trials across different ataxias. Regulators, especially FDA, have reservations about the scale as a clinical
- [PrePolyQ-SCA: characterization of the presymptomatic stage in polyglutamine SCAs](https://ataxia-global-initiative.net/projects/prepolyq-sca-characterization-of-the-presymptomatic-stage-in-polyglutamine-scas/) - Goal: - Bring together and enlarge existing cohorts of presymptomatic mutation carriers and subjects at risk for spinocerebellar ataxia type 1, 2, 3 or 6. Description: Several new treatment options, in particular gene therapies, are on the horizon for spinocerebellar ataxias. As in other hereditary neurodegenerative diseases there is a presymptomatic phase before the clinical
- [Genetic modifiers of the CANVAS (RFC1 expansion) and other recessive repeat expansion disorders](https://ataxia-global-initiative.net/projects/genetic-modifiers-of-the-canvas-rfc1-expansion-and-other-recessive-repeat-expansion-disorders/) - Goal: - Identifying contributory factors to CANVAS and FRDA such as non-coding or coding modifying genetic variation. Description: CANVAS is caused by RFC1 expansions and is a frequent cause of inherited ataxia. There are other causes of recessive ataxia, where the most prevalent one is Friedreich ataxia (FRDA) caused by GAA expansions. The RFC1 expansion
- [Pre-FA: a clinical and biomarker study of asymptomatic individuals at risk of developing Friedreich ataxia](https://ataxia-global-initiative.net/projects/pre-fa-a-clinical-and-biomarker-study-of-asymptomatic-individuals-at-risk-of-developing-friedreich-ataxia/) - Goal: - To follow-up at-risk individuals for Friedreich Ataxia, consisting of regular clinical examinations with video recordings, inspection of family photos and videos, and collection of samples for biomarker studies Description: Friedreich ataxia (FRDA) is the most common ARCA in Caucasians. FRDA is characterized by marked differences in the timing of pathology in the affected
- [CACNA1A-related ataxia: functional characterization of clinically severe variants for drug repurposing](https://ataxia-global-initiative.net/projects/cacna1a-related-ataxia-functional-characterization-of-clinically-severe-variants-for-drug-repurposing/) - Goals: - Evaluate the impact of these severe recurrent variants in a wide ataxic population, in order to define a clinical signature for the subjects at risk for severe episodes that can be life threatening - Analyze CACNA1A patient-derived cells reprogrammed into neuronal cell lines (iPSCs), performing biochemical, morphometric, and electrophysiological studies. - Test the
- [Trial readiness in POLG-associated ataxia](https://ataxia-global-initiative.net/projects/trial-readiness-in-polg-associated-ataxia/) - Goals: - Prospective, multicentric assessment of the natural progression of POLG ataxia for delineation of sensitive clinical progression markers - Development of imaging, movement-related and fluid biomarkers reflecting progression of disease - Sample size estimation for interventional trials Description: Trial readiness in ultra-rare diseases like ataxia due to mutations in the mitochondrial polymerase gamma (POLG)
- [Stratifying SCA3 patients towards individualized treatment](https://ataxia-global-initiative.net/projects/stratifying-sca3-patients-towards-individualized-treatment/) - Goals: - Genotype and characterize genetic variances within SCA3 patients in order to a) stratify patients for known modifying factors, and b) identify novel important variances Description: Spinocerebellar Ataxia type 3 (SCA3) or Machado-Joseph disease (MJD) is caused by a CAG repeat expansion within the ATXN3 gene. The ATXN3 gene contains non­synonymous single nucleotide polymorphisms
- [Identification and characterization of biomarkers from blood plasma and CSF of spinocerebellar ataxia-1 (SCA1) patients: alignment with imaging and natural history studies](https://ataxia-global-initiative.net/projects/identification-and-characterization-of-biomarkers-from-blood-plasma-and-csf-of-spinocerebellar-ataxia-1-sca1-patients-alignment-with-imaging-and-natural-history-studies/) - Goal: - Identify, validate and align biomarkers for SCA1 Description: The goal of this project is to reach clinical trial readiness for SCA1, especially as ATXN1 lowering therapies show promise in preclinical models. Current clinical trials are limited by the lack of biomarkers, in particular fluid biomarkers. We propose to identify, validate and align biomarkers
- [SCA & ARCA Global Conference 2020 - Sponsors Online Booth](https://ataxia-global-initiative.net/events/sca-arca-global-conference-2020/sponsors/) - Home About SCA ARCA Governance Charter Membership Partnership Steering Committee Ataxia Global Initiative Office Working Groups #1 Clinical outcome assessments & registries #2 Molecular biomarkers & biosampling #3 MRI biomarkers #4 Digital-motor biomarkers #5 Model systems & preclinical trials #6 Next-generation genomics & platforms #7 Policy and patient organization engagement #8 Patient-reported experience & outcome
- [SCA & ARCA Global Conference 2020 - Abstracts](https://ataxia-global-initiative.net/events/sca-arca-global-conference-2020/abstracts/) - Home About SCA ARCA Governance Charter Membership Partnership Steering Committee Ataxia Global Initiative Office Working Groups #1 Clinical outcome assessments & registries #2 Molecular biomarkers & biosampling #3 MRI biomarkers #4 Digital-motor biomarkers #5 Model systems & preclinical trials #6 Next-generation genomics & platforms #7 Policy and patient organization engagement #8 Patient-reported experience & outcome
- [SCA & ARCA Global Conference 2020 - Programme & recorded sessions](https://ataxia-global-initiative.net/events/sca-arca-global-conference-2020/programme-and-recorded-sessions/) - Home About SCA ARCA Governance Charter Membership Partnership Steering Committee Ataxia Global Initiative Office Working Groups #1 Clinical outcome assessments & registries #2 Molecular biomarkers & biosampling #3 MRI biomarkers #4 Digital-motor biomarkers #5 Model systems & preclinical trials #6 Next-generation genomics & platforms #7 Policy and patient organization engagement #8 Patient-reported experience & outcome
- [Biohaven pharmaceuticals](https://ataxia-global-initiative.net/events/sca-arca-global-conference-2020/sponsors/biohaven-pharmaceuticals/) - Description Biohaven is a clinical-stage biopharmaceutical company with proven leadership in industry and academic settings. Our portfolio is comprised of innovative, late-stage product candidates targeting neurological and neuropsychiatric diseases, including rare disorders. Our progress is fueled by an entrepreneurial organizational structure and an impressive range of experience in drug development along with the confident support
- [IXICO](https://ataxia-global-initiative.net/events/sca-arca-global-conference-2020/sponsors/ixico/) - Description IXICO is a medical data analytics company, providing data management and advanced analytics for pharmaceutical clinical trials. Established in 2004, IXICO has firmly established itself as a trusted partner to the global pharmaceutical industry developing new therapies for neurological conditions such as Alzheimer’s, Parkinson’s and rare diseases including Huntington’s disease and Ataxias. Our extensive
- [Triplet Therapeutics](https://ataxia-global-initiative.net/events/sca-arca-global-conference-2020/sponsors/triplet-therapeutics/) - Description Triplet Therapeutics is leveraging insights from human genetics to develop therapies targeting the underlying cause of repeat expansion disorders (REDs), a group of more than 50 known genetic diseases including spinocerebellar ataxias (SCAs) as well as Huntington’s disease (HD), myotonic dystrophy type 1 (DM1) and others. Triplet seeks to stop the progression of REDs,
- [Vico Therapeutics](https://ataxia-global-initiative.net/events/sca-arca-global-conference-2020/sponsors/vico-therapeutics/) - Description The icon of our Vico logo symbolizes an oligonucleotide in the shape of a brain, representing the technology we use to develop therapies for diseases of the central nervous system. Vico was founded in Q4 2019 by the highly experienced entrepreneurs Luc Dochez and Josh Mandel-Brehm and seasoned scientists Dr. Judith van Deutekom and Dr. Gail Mandel with strong academic reputations and
- [Ionis](https://ataxia-global-initiative.net/events/sca-arca-global-conference-2020/sponsors/ionis/) - Description As the leader in RNA-targeted drug discovery and development, Ionis has created an efficient, broadly applicable, drug discovery platform called antisense technology that can treat diseases where no other therapeutic approaches have proven effective. Our drug discovery platform has served as a springboard for actionable promise and realized hope for patients with unmet needs.
- [Roche](https://ataxia-global-initiative.net/events/sca-arca-global-conference-2020/sponsors/roche/) - Description Founded 1896 in Basel, Switzerland Founding families still hold majority stake Clear focus on unique innovation model World’s largest biotech company Leadership in in-vitro diagnostics Roche is a global pioneer in personalised healthcare: Employing > 97,000 people Sales of CHF 61.5 billion R&D core investments of CHF 11.7 billion 32 Roche medicines on the
- [uniQure](https://ataxia-global-initiative.net/events/sca-arca-global-conference-2020/sponsors/uniqure/) - Description uniQure is delivering on the promise of gene therapy -- single treatments with potentially curative results. We are leveraging our modular and validated technology platform to rapidly advance a pipeline of proprietary and partnered gene therapies to treat patients with hemophilia, Huntington’s disease, spinocerebellar ataxia, and other severe genetic diseases. We are advancing a
- [UCB](https://ataxia-global-initiative.net/events/sca-arca-global-conference-2020/sponsors/ucb/) - Description UCB is a global biopharmaceutical company focused on the discovery and development of innovative medicines and solutions to transform the lives of people living with severe diseases of the immune system or of the central nervous system. UCB flyer Contact E-Mail www.ucb.com/UCBCares Website www.ucb.com Social media Twittter Facebook LinkedIn Instagram
- [Cadent Therapeutics](https://ataxia-global-initiative.net/events/sca-arca-global-conference-2020/sponsors/cadent-therapeutics/) - Description Cadent Therapeutics is creating therapies for the treatment of cognitive, mood, and movement disorders through ion channel modulation to regularize rhythms of the brain. The company combines target specificity, patient selection, drug design and optimization, and novel quantitative endpoints to create first-in-class molecules to these disorders. Cadent Therapeutics is rapidly advancing its pipeline of

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