Programme & recorded sessions
To view the recorded sessions, please click on the hyperlinked session title (with a play symbol) to view it.
To view the pre-recorded flash talks, please click on the hyperlinked abstract title (with a play symbol). In some cases only the PDF of the abstract is available.
| Monday, 19 October 2020 (online) | ||
| 15:00 | SCA & ARCA Global: setting the stage Chair: Holm Graessner (Tübingen, Germany) |
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| 15:00 Welcome Thomas Klockgether (Bonn, Germany), Matthis Synofzik (Tübingen, Germany) |
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| 15:15 Keynote lecture Towards trial-equivalent natural history studies in SCAs and ARCAs: standards and criteria for trial-readiness Massimo Pandolfo (Brussels, Belgium) |
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| 15:50 | Session 1: Clinical, patient-reported and digital biomarkers Chair: Thomas Klockgether (Bonn, Germany) |
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| 15:50 Biomarkers and prospects for interventional trials at the preataxic stage Luis Velázquez-Pérez (Holguín, Cuba) |
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| 16:10 Patient-reported outcome measures for ataxia (PROM-Ataxia): ready for trials? Jeremy Schmahmann (Boston, USA) |
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| 16:30 Speech as a biomarker in ataxia: What can it tell us and how should we use it? Adam Vogel (Melbourne, Australia) |
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| 16:40 Wearable Sensors for multicentre clinical ataxia trials: assessment in clinics/lab Fay Horak (Chicago, USA) | ||
| 16:50 Wearable Sensors for multicentre clinical ataxia trials: assessment in real life Winfried Ilg (Tübingen, Germany) |
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| 17:00 | Break Virtual coffee rooms Meet the speakers of Session 1 |
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| 17:30 | Session 2: Fluid and imaging biomarkers Chair: Gülin Öz (Minneapolis, USA) |
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| 17:30 Neurofilaments as translational fluid biomarkers for SCA: cross-species evidence from SCA3 cohorts and mice Matthis Synofzik (Tübingen, Germany) |
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| 17:50 Ataxin-3 proteins in biofluids Leonard Petrucelli (Jacksonville, USA) |
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| 18:10 MRI in SCA3 Marcondes França Jr. (Campinas, Brazil) |
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| 18:30 Magnetic resonance biomarkers in ARCAs: lessons learned Pierre-Gilles Henry (Minnesota, USA) |
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| 18:50 | Flash talks I: Clinical outcomes & natural history | Flash talks II: Molecular biomarkers & treatment approaches |
| Chair: Vikram Shakkottai (Ann Arbour, USA) | Chair: Julie Greenfield (Ataxia UK) | |
| Natural history and phenotypic spectrum of multisystemic RFC1-disease: a first large cohort study, and a novel multicenter longitudinal natural history study Andreas Traschütz (Tübingen, Germany) |
Allele-specific AAV-based silencing of mutant ataxin-3 alleviates neuropathology and motor deficits in spinocerebellar ataxia type 3 Luis Pereira de Almeida (Coimbra, Portugal) |
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| Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia in the longitudinal RISCA study Heike Jacobi (Bonn, Germany) |
A pharmacological treatment acting on calcium homeostasis improves motor ability and delays Purkinje cell loss in the ARSACS mouse model Francesca Maltecca (Milan, Italy) |
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| A new tool for prompt and comprehensive visualization and comparison of cohort characteristics in spinocerebellar ataxias Mischa Uebachs (Bonn, Germany) |
Association of serum neurofilament light (sNfL) and disease severity in patients with spinocerebellar ataxia type 3 Hong Jiang (Changsha, Hunan, China) |
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| Linear progression of SARA scores in SCA 1, 2, 3 and 6 patients across countries Emilien Petit (Paris, France) |
PolyQ-expanded ataxin-3: a potential target engagement marker for SCA3 in peripheral blood Jeannette Hübener-Schmid (Tübingen, Germany) |
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| Natural history of polymerase gamma related ataxia Friedemann Bender (Tübingen, Germany) |
Combined transgene and intron-derived miRNA therapy for the treatment of SCA1 Ellie Carrell (Philadelphia, PA USA) |
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| Validation of a German version of the Cerebellar Cognitive Affective/Schmahmann Syndrome Scale: study protocol and preliminary results Andreas Thieme (Essen, Germany) |
CRISPR/Cas9-based gene knockout in Spinocerebellar Ataxia type 1 (SCA1) Mariangela Pappadà (Ferrara, Italy) |
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| 19:20 | Break Virtual coffee rooms Meet the speakers of Session 2 and Flash Talks I & II |
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| 19:50 | SCA Working Group Results Chair: Tetsuo Ashizawa (Houston, TX, USA) |
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| 19:50 Clinical outcome assessments Thomas Klockgether (Bonn, Germany) |
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| 20:20 MR biomarkers Gülin Öz (Minneapolis, USA) |
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| 20:50 Biosampling standards Puneet Opal (Chicago, USA) |
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| 21:20 SCA Global policy Holm Graessner (Tübingen, Germany) |
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| 21:50 | SCA Global – Young Investigator Initiative
Chair: Heike Jacobi (Heidelberg, Germany) & Jennifer Faber (Bonn, Germany)
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| 22:30 | End meeting day 1 | |
| Tuesday, 20 October 2020 (online) | ||
| 15:00 | Session 3: Trial-readiness Chair: Laura Jardim (Porto Alegre, Brazil) |
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| 15:00 From trial-ready cohorts to first clinical trials in global multicenter studies of rare diseases: learning from DIAN-TU David Clifford (St. Louis, USA) |
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| 15:20 Natural history and treatment trial design for ultra-rare diseases Ralf-Dieter Hilgers (Aachen, Germany) |
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| 15:40 Making outcome measures ready for regulatory acceptance: FDA qualification standards for outcome measures, biomarker and data aggregation in ultra-rare diseases Jane Larkindale (C-Path Institute, Tucson, USA) |
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| 16:00 | Session 4: Industry panel / presentations on planned trials Chair: Holm Graessner (Tübingen, Germany) |
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| 16:00 Targeting DNA damage response genes for modulation of somatic instability Irina Antonijevic (Triplet Therapeutics) |
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| 16:10 Development of an AAV-based miQURE gene therapy for SCA3 Lodewijk Toonen (UniQure) |
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| 16:20 Suppression of mutant polyQ protein expression throughout the CNS in HD, SCA1 and SCA3 mice using a single CAG repeat-targeting antisense oligonucleotide. Nicole Datson (Vico Therapeutics) |
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| 16:30 Challenges and opportunities in the deployment of volumetric MRI in SCA clinical trials Robin Wolz (IXICO) |
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| 16:40 Phase 2 Study of CAD-1883 for Spinocerebellar Ataxia (Synchrony-1) Christopher Kenney (Cadent Therapeutics) |
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| 16:50 Results from the Long-Term Open Label Extension Phase Analyses of BHV4157-201: A Phase IIb/III, Randomized, Double-blind, Placebo-controlled Trial of the Safety and Efficacy of Troriluzole in Adult Subjects with Spinocerebellar Ataxia Melissa Wolf Beiner (Biohaven) |
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| 17:00 General discussion on trial feasability | ||
| 17:20 | Break Virtual coffee rooms Meet the speakers of Session 3 and 4 |
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| 17:50 | Flash talks III: Digital and imaging outcome markers and disease modifiers | Flash talks VI: Molecular mechanisms and treatment approaches |
| Chair: Julie Greenfield (Ataxia UK) | Chair: Brent Fogel (Los Angeles, USA) | |
| Validation of hSARA and first data from home-application Marcus Grobe-Einsler (Bonn, Germany) |
Mechanism of conserved ancestral haplotype in SCA10 Tetsuo Ashizawa (Houston, TX, USA) |
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| Quantifying Ataxia-Related Motor Impairments in Ataxic Rodents and Humans Using Markerless Video Tracking With Deep Neural Networks Jana Lang (Tübingen, Germany) |
A DNAzyme that cleaves CAG repeat RNA in polyglutamine diseases Nan Zhang (Houston, TX, USA) |
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| Clinical scales and vestibulo-ocular reflex show changes in time since pre-clinical stages in Machado-Joseph disease/ spinocerebellar ataxia type 3 (BIGPRO Study) Camila Maria de Oliveira (Porto Alegre, Brazil) |
Ataxin-1 is signalled to DNA damage by ATM kinase Celeste Suart (Hamilton, Ontario, Canada) |
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| Gait Laboratory in a Box: Objective gait assessment via smartphone analysis Andrea H.Németh (Oxford, UK) |
Atxn2-CAG100-KnockIn mouse spinal cord shows progressive TDP43 pathology associated with cholesterol biosynthesis suppression Georg Auburger (Frankfurt/M, Germany) |
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| Cross-sectional and longitudinal assessment of the structural alterations in pre-ataxic and ataxic Spinocerebellar Ataxia Type 3 (SCA3) Jennifer Faber (Bonn, Germany) |
JNK inhibitor ameliorates the SCA1 phenotype by inhibiting Bergmann glial inflammation Chandrakath R Edamakanti (Chicago, IL, USA) |
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| Whole-exome sequencing identifies novel Machado-Joseph disease-modifying genes and pathways Mafalda Raposo (Porto, Portugal) |
Dentatorubral-pallidoluysian atrophy (DRPLA): development of an ASO therapy and understanding the impact of ATN1 CAG expansion Joanna A.Korecka (Boston, MA, USA) |
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| 18:20 | Session 5: Existing ARCA cohorts Chair: José Luiz Pedroso (Sao Paolo, Brazil) |
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| 18:20 ARCAs in Europe: PREPARE Matthis Synofzik (Tübingen, Germany) |
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| 18:35 ARCAs in Europe: SPATAX Alexandra Dürr (Paris, France) |
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| 18:50 ARCAs in Canada Bernard Brais (Montreal, Canada) |
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| 19:05 ARCAs in USA Brent Fogel (Los Angeles, USA) |
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| 19:20 ARCAs in Central and South America José Luiz Pedroso (Sao Paolo, Brazil) |
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| 19:35 ARCAs in Australia David Szmulewicz (Melbourne, Australia) |
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| 19:50 ARCAs in Asia Osamu Onodera (Niigata, Japan) |
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| 20:05 | Break Virtual coffee rooms Meet the speakers of Session 5 and Flash Talks III & IV |
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| 20:35 | Session 6: Genes & Mechanisms Chair: Alexandra Dürr (Paris, France) |
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| 20:35 SCAs: mechanisms, model systems and compound screening Henry Paulson (Michigan, USA) |
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| 20:55 ARCAs: mechanisms, model systems and compound screening Helene Puccio (Lyon, France) |
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| 21:15 | Genetic platforms for collaborative ARCA and SCA gene hunting Chair: Matthis Synofzik (Tübingen, Germany) |
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| 21:15 GENESIS Stephan Zuchner (Miami, USA) |
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| 21:25 GPAP / RD-Connect Sergi Beltran (Barcelona, Spain) |
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| 21:35 CAGC Brent Fogel (Los Angeles, USA) |
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| 21:45 Round table: NGS platforms – how to collaborate within ARCA and SCA Global? All speakers; moderator: Matthis Synofzik (Tübingen, Germany) |
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| 22:00 | End meeting day 2 | |
| Wednesday, 21 October 2020 (online) | ||
| 15:00 | ARCA Working Group Sessions Chair: Matthis Synofzik (Tübingen, Germany) |
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| 15:00 Defining tasks and introduction of working groups Holm Graessner (Tübingen, Germany) |
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15:10 ARCA Working Group Discussions:
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| 16:30 | Break Virtual coffee rooms |
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| 17:00 | ARCA Working Group Results Chair: Sue Hagen (NAF) |
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| 17:00 #1 Clinical outcomes & registry Rebecca Schüle (Tübingen, Germany), Thomas Klockgether (Bonn, Germany) |
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| 17:10 #2 next-generation genomics & platforms Matthis Synofzik (Tübingen, Germany) |
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| 17:20 #3 molecular biomarkers & biosampling David Mengel (Tübingen, Germany), Puneet Opal (Chicago, USA), Filippo Santorelli (Rome, Italy) |
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| 17:30 #4 MRI biomarkers Ian Harding (Melbourne, Australia), Sirio Cocozza (Naples, Italy), Pierre-Gilles Henry (Minnesota, USA) |
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| 17:40 #5 digital-motor biomarkers Adam Vogel (Melbourne, Australia), Andreas Traschütz (Tübingen, Germany) |
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| 17:50 #6 model systems & preclinical trials Bernard Brais (Montreal, Canada), Francesca Maltecca (Milan, Italy), Helene Puccio (Lyon, France) |
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| 18:00 #7 policies & patient organization engagement Holm Graessner (Tübingen, Germany), Julie Greenfield (Ataxia UK) |
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| 18:10 ARCA Wrap-up Matthis Synofzik (Tübingen, Germany) |
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| 18:30 | End of SCA & ARCA Global Conference 2020 | |