Program

Friday, 4 November 2022

12.00 – 13.00 Registration

13.00 – 13.05     Welcome

Session 1: Update cohorts
13.05 - 13.20 Cohort update – ESMI (Jennifer Faber, DZNE Bonn, Germany)

13.20 - 13.35 The ARCA cohort: a global collaborative longitudinal cohort for advancing trial readiness in autosomal recessive cerebellar ataxias (Matthis Synofzik, University of Tübingen, Germany)

13.35 - 13.50 Cohort update – South America (Laura Jardim, Universidade Federal do Rio Grande do Sul, Brazil)

13.50 - 14.05 Cohort update – China (Hong Jiang, Central South University, China)

14.05 - 14.20 READISCA (Tetsuo Ashizawa, Houston Methodist Research Institute, USA)

14.20 - 14.30 Clinical phenotype and biomarkers in sporadic degenerative ataxia: longitudinal data from the SPORTAX registry (Thomas Klockgether, DZNE Bonn, Germany)

14.30 - 14.40 Mapping the natural history of SPG7: cross-sectional progression rates in 97 patients from the PROSPAX study. (Rebecca Schüle, University of Heidelberg, Germany)

14.40 - 15.00 Data sharing success stories (ESMI – Thomas Klockgether, DZNE Bonn, Germany; C-Path – Kael White tbc, Ataxias Consortium at Critical Path Institute, USA)

15:00 - 15:45 Coffee break

Session 2: Patient-related outcomes
15.45 - 16:05 KEYNOTE LECTURE: Activities of Daily Living (Christian Rummey, Clinical Data Science, Switzerland)

16.05 - 16.20 Patient-focused outcomes in genetic ataxias: cross-sectional validity and longitudinal sensitivity to change of the FARS-ADL (Andreas Traschütz, University of Tübingen, Germany)

16.20 - 16.35 Determining clinical meaningful change of clinical and non-clinical outcomes: how can it be achieved? (Sophie Tezenas, Sorbonne University, France)

16.35 - 16.50 Capturing clinical progression in multisystemic genetic ataxias: lessons from 1637 prospective assessments in patients with autosomal recessive or early-onset ataxia (Andreas Traschütz, University of Tübingen, Germany)

16.50 - 17.00 Temporal dynamics of the Scale for the Assessment and Rating of Ataxia (SARA). (Paul Moulaire, Sorbonne University, France)

17.00 - 17.10 Clinical meaningful outcomes in ataxias (tbc)

17.10 - 17.40 Panel discussion: clinical meaningful outcomes in ataxias (tbc)

17.40 - 18.00 Group photo

18.00 - 19.30 Poster Session

20.00 Meeting of the AGI Steering Committee

Saturday, 5 November 2022

Session 3: Biomarkers
8.30 - 8.50 KEYNOTE LECTURE: Remote disease specific movement monitoring – (Lisa Alcock, Newcastle University, UK)

8.50 - 9.05 Body worn sensors – remote monitoring in Ataxias: results from the US (James McNames, Portland State University, USA)

9.05 - 9.20 Body worn sensors – remote monitoring in Ataxias: results from Europe (Winfried Ilg, University of Tübingen, Germany)

9.20 - 9.35 Challenges and possibilities of automated speech monitoring in ataxia (Adam Vogel, University of Melbourne, Australia)

9.35 - 9.50 Using blood NfL as a predictive molecular biomarker: the example of SCA1 and MSA-C (Carlo Wilke, University of Tübingen, Germany)

9.50 - 10.05 Imaging biomarker recessive ataxias (Marcondes C Franca Junior, University of Campinas, Brazil)

10:05 - 10.15 Advanced multimodal MRI detects preataxic and early-stage alterations in SCA1 and SCA3 with high sensitivity. (Gülin Öz, University of Minnesota, USA)

10.15 - 10.25 Subtle abnormalities of gait and posture in the prodromal stage of spinocerebellar ataxia type 2. (Yasmany González-Garcés, Centre for the Research and Rehabilitation of Hereditary Ataxias Holguín, Cuba)

10.30 - 11.00 Panel discussion: regulatory acceptance - presymptomatic stage (Stephanie Fradette, Biogen, USA; Michael Benatar, University of Miami, USA; Matthis Synofzik, University of Tübingen, Germany)

11.00 - 12.00 Coffee break

Session 4: Therapy
12:00 - 12:20 KEYNOTE LECTURE: Developing mutation-customized ASOs for ultra-rare and private ataxias (Willeke van Roon-Mom, Leiden University Medical Center, Netherlands)

12:20 - 12:40 KEYNOTE LECTURE: Genetic therapy approaches for neurodegenerative brain diseases and tackling the delivery challenge: the example of genetic FTD (Chris Shaw, King's College London, UK)

12:40 - 12:50 Increasing power of clinical trials in SCA1, 2, 3 and 6 with efficient designs and SARA scales. (Emilien Petit, Sorbonne University, France)

12:50 - 13:00 Cerebellar transcranial direct current stimulation in spinocerebellar ataxia type 3: a randomized, double-blind, sham-controlled trial. (Roderick Maas, Radboud University Medical Center, Netherlands)

13:00 - 13:30 Industry session (tbc)

All in local time CDT (Dallas, TX, USA)