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  that AGI is not a funding organization.

The list of ongoing projects below are supported by AGI.

 

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
IDEA-Instrumented Data Exchange for Ataxia 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)
Worldwide evaluation of PROM ataxia in genetic ataxias Heike Jacobi, Jennifer Faber Patients with the most frequent genetically confirmed ataxias.
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) as a biomarker for monitoring DNA strand breaks and neurological dysfunction in polyglutamine SCAs 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