SCA & ARCA Global Conference 2020 – Programme & recorded sessions

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)
15:00 Welcome
Thomas Klockgether (Bonn, Germany), Matthis Synofzik (Tübingen, Germany)
15:15 Keynote lecture
Towards trial-equivalent natural history studies in SCAs and ARCAs: standards and criteria for trial-readiness
Massimo Pandolfo (Brussels, Belgium)
15:50 Session 1: Clinical, patient-reported and digital biomarkers
Chair: Thomas Klockgether (Bonn, Germany)
15:50 Biomarkers and prospects for interventional trials at the preataxic stage
Luis Velázquez-Pérez (Holguín, Cuba)
16:10 Patient-reported outcome measures for ataxia (PROM-Ataxia): ready for trials?
Jeremy Schmahmann (Boston, USA)
16:30 Speech as a biomarker in ataxia: What can it tell us and how should we use it?
Adam Vogel (Melbourne, Australia)
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)
17:00 Break
Virtual coffee rooms
Meet the speakers of Session 1
17:30 Session 2: Fluid and imaging biomarkers
Chair: Gülin Öz (Minneapolis, USA)
17:30 Neurofilaments as translational fluid biomarkers for SCA: cross-species evidence from SCA3 cohorts and mice
Matthis Synofzik (Tübingen, Germany)
17:50 Ataxin-3 proteins in biofluids
Leonard Petrucelli (Jacksonville, USA)
18:10 MRI in SCA3
Marcondes França Jr. (Campinas, Brazil)
18:30 Magnetic resonance biomarkers in ARCAs: lessons learned
Pierre-Gilles Henry (Minnesota, USA)
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)
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)
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)
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)
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)
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)
19:20 Break
Virtual coffee rooms
Meet the speakers of Session 2 and Flash Talks I & II
19:50 SCA Working Group Results
Chair: Tetsuo Ashizawa (Houston, TX, USA)
19:50 Clinical outcome assessments
Thomas Klockgether (Bonn, Germany)
20:20 MR biomarkers
Gülin Öz (Minneapolis, USA)
20:50 Biosampling standards
Puneet Opal (Chicago, USA)
21:20 SCA Global policy
Holm Graessner (Tübingen, Germany)
21:50 SCA Global – Young Investigator Initiative

Chair: Heike Jacobi (Heidelberg, Germany) & Jennifer Faber (Bonn, Germany)

  • Introduction
  • Ataxia scales training
  • Further steps
22:30 End meeting day 1


Tuesday, 20 October 2020 (online)
15:00 Session 3: Trial-readiness
Chair: Laura Jardim (Porto Alegre, Brazil)
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)
15:20 Natural history and treatment trial design for ultra-rare diseases
Ralf-Dieter Hilgers (Aachen, Germany)
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)
16:00 Session 4: Industry panel / presentations on planned trials
Chair: Holm Graessner (Tübingen, Germany)
16:00 Targeting DNA damage response genes for modulation of somatic instability
Irina Antonijevic (Triplet Therapeutics)
16:10 Development of an AAV-based miQURE gene therapy for SCA3
Lodewijk Toonen (UniQure)
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)
16:30 Challenges and opportunities in the deployment of volumetric MRI in SCA clinical trials
Robin Wolz (IXICO)
16:40 Phase 2 Study of CAD-1883 for Spinocerebellar Ataxia (Synchrony-1)
Christopher Kenney (Cadent Therapeutics)
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)
17:00 General discussion on trial feasability
17:20 Break
Virtual coffee rooms
Meet the speakers of Session 3 and 4
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)
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)
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)
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)
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)
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)
18:20 Session 5: Existing ARCA cohorts
Chair: José Luiz Pedroso (Sao Paolo, Brazil)
18:20 ARCAs in Europe: PREPARE
Matthis Synofzik (Tübingen, Germany)
18:35 ARCAs in Europe: SPATAX
Alexandra Dürr (Paris, France)
18:50 ARCAs in Canada
Bernard Brais (Montreal, Canada)
19:05 ARCAs in USA
Brent Fogel (Los Angeles, USA)
19:20 ARCAs in Central and South America
José Luiz Pedroso (Sao Paolo, Brazil)
19:35 ARCAs in Australia
David Szmulewicz (Melbourne, Australia)
19:50 ARCAs in Asia
Osamu Onodera (Niigata, Japan)
20:05 Break
Virtual coffee rooms
Meet the speakers of Session 5 and Flash Talks III & IV
20:35 Session 6: Genes & Mechanisms
Chair: Alexandra Dürr (Paris, France)
20:35 SCAs: mechanisms, model systems and compound screening
Henry Paulson (Michigan, USA)
20:55 ARCAs: mechanisms, model systems and compound screening
Helene Puccio (Lyon, France)
21:15 Genetic platforms for collaborative ARCA and SCA gene hunting
Chair: Matthis Synofzik (Tübingen, Germany)
Stephan Zuchner (Miami, USA)
21:25 GPAP / RD-Connect
Sergi Beltran (Barcelona, Spain)
21:35 CAGC
Brent Fogel (Los Angeles, USA)
21:45 Round table: NGS platforms – how to collaborate within ARCA and SCA Global?
All speakers; moderator: Matthis Synofzik (Tübingen, Germany)
22:00 End meeting day 2


Wednesday, 21 October 2020 (online)
15:00 ARCA Working Group Sessions
Chair: Matthis Synofzik (Tübingen, Germany)
15:00 Defining tasks and introduction of working groups
Holm Graessner (Tübingen, Germany)
15:10 ARCA Working Group Discussions:

    • #1 Clinical outcomes & registry
      Chair: Rebecca Schüle, Tübingen, Germany & Thomas Klockgether, Bonn, Germany
    • #2 next-generation genomics & platforms
      Chair: Matthis Synofzik (Tübingen, Germany)
    • #3 molecular biomarkers & biosampling
      Chair: David Mengel (Tübingen, Germany), Puneet Opal (Chicago, USA), Filippo Santorelli (Rome, Italy)
    • #4 MRI biomarkers
      Chair: Ian Harding (Melbourne, Australia), Sirio Cocozza (Naples, Italy), Pierre-Gilles Henry (Minnesota, USA)
    • #5 digital-motor biomarkers
      Chair: Adam Vogel (Melbourne, Australia) & Andreas Traschütz (Tübingen, Germany)
    • #6 model systems & preclinical trials
      Chair: Bernard Brais (Montreal, Canada), Francesca Maltecca (Milan, Italy), Helene Puccio (Lyon, France)
    • #7 policies & patient organization engagement
      Chair: Holm Graessner (Tübingen, Germany) & Julie Greenfield (Ataxia UK)
16:30 Break
Virtual coffee rooms
17:00 ARCA Working Group Results
Chair: Sue Hagen (NAF)
17:00 #1 Clinical outcomes & registry
Rebecca Schüle (Tübingen, Germany), Thomas Klockgether (Bonn, Germany)
17:10 #2 next-generation genomics & platforms
Matthis Synofzik (Tübingen, Germany)
17:20 #3 molecular biomarkers & biosampling
David Mengel (Tübingen, Germany), Puneet Opal (Chicago, USA), Filippo Santorelli (Rome, Italy)
17:30 #4 MRI biomarkers
Ian Harding (Melbourne, Australia), Sirio Cocozza (Naples, Italy), Pierre-Gilles Henry (Minnesota, USA)
17:40 #5 digital-motor biomarkers
Adam Vogel (Melbourne, Australia), Andreas Traschütz (Tübingen, Germany)
17:50 #6 model systems & preclinical trials
Bernard Brais (Montreal, Canada), Francesca Maltecca (Milan, Italy), Helene Puccio (Lyon, France)
18:00 #7 policies & patient organization engagement
Holm Graessner (Tübingen, Germany), Julie Greenfield (Ataxia UK)
18:10 ARCA Wrap-up
Matthis Synofzik (Tübingen, Germany)
18:30 End of SCA & ARCA Global Conference 2020