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.

The next deadline for project proposals is 15 June 2022. You can send your project proposal to ataxiaglobaloffice[at]med.uni-tuebingen.de. Please use this template.

These projects proposals will be collected, refined, elaborated and coordinated further by AGI as trial-readiness platforms. These further processing steps will catalyse the collaborative character of the projects. Please note  that AGI is not a funding organisation.

The list of ongoing projects below are supported by AGI. They were submitted after the SCA & ARCA Global conference in October 2020 and have been evaluated by the AGI Steering Committee

 

Project title Contact person Cohorts
Trial readiness in POLG-associated ataxia Friedemann Bender, Ludger Schöls POLG-associated ataxia
CACNA1A-related ataxia: functional characterization of clinically severe variants for drug repurposing Enrico Bertini, Ginevra Zanni CACNA1A-related ataxia
Genetic modifiers of the CANVAS (RFC1 expansion) and other recessive repeat expansion disorders Andrea Cortese, Henry Houlden CANVAS and FRDA
PrePolyQ-SCA: characterization of the presymptomatic stage in polyglutamine SCAs Jennifer Faber SCA1, 2, 3, 6
Expanding the reach of a digital ataxia biomarker for motor performance Christopher Gomez, Fay Horak, James McNames All SCAs & ARCAs
Identifying new repeat expansions and structural variants in autosomal dominant cerebellar ataxias Holger Hengel ADCA (unsolved, SCA10, 31, 36, & 37)
Interaction between genes, caffeine and tobacco use as factors for the onset of Machado-Joseph disease/Spinocerebellar Ataxia Type 3 Laura Bannach Jardim SCA3 in Canada and Brazil
PAHAN survey: access of patients with hereditary ataxias to diagnosis and management in the American continents and the Caribbean Laura Bannach Jardim All hereditary ataxias
SARAglobal: Development and validation of an improved version of SARA Thomas Klockgether EUROSCA, RISCA, ESMI
Functional characterization and rehabilitative approach on rare autosomal recessive ataxias Andrea Martinuzzi Patients with molecularly characterized rare ARCA
Stem cell models of ARCAs to understand pathogenic, therapeutically tractable mechanisms Andrea Nemeth ADCA (unsolved, SCA10, 31, 36, & 37)
Identification and characterization of biomarkers from blood plasma and CSF of spinocerebellar ataxia-1 (SCA1) patients: alignment with imaging and natural history studies Puneet Opal SCA1 (could be extended to SCA2, 3, and 7)
Pre-FA: a clinical and biomarker study of asymptomatic individuals at risk of developing Friedreich ataxia Massimo Pandolfo Individuals at risk for FA
The upper limb cardiopulmonary exercise test in autosomal recessive ataxias Francesco Saccà ARCA2, ARCA3, ARSACS, SPG7
Stratifying SCA3 patients towards individualized treatment Thorsten Schmidt SCA3
PROSPAX: an integrated multimodal progression chart in spastic ataxias (ARSACS, SPG7) Rebecca Schüle SPG7, ARSACS
CSF levels of poly(ADP) ribose-modified proteins as a biomarker for monitoring DNA strand breaks and NAD+ depletion in ARCAs Vikram Shakkottai AT, ATLD, AOA1, AOA2, ARSACS, SPG7, POLG
RFC1: a global multicenter multimodal natural history, clinical outcome and biomarker study, based on the ARCA registry Andreas Traschütz RFC1
Speech-ATAXIA: a multinational, multilanguage consortia for speech in hereditary ataxias Adam Vogel All SCAs and ARCAs