Projects

These ongoing projects 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
Identifying new repeat expansions and structural variants in autosomal dominant cerebellar ataxias Holger Hengel ADCA (unsolved, SCA10, 31, 36, & 37)
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 cells models of ARCAs to understand pathogenic, therapeutically tractable mechanisms Andrea Nemeth ADCA (unsolved, SCA10, 31, 36, & 37)
The Upper Limb Cardiopulmonary Exercise Test in Autosomal Recessive Ataxias Francesco Saccà ARCA2, ARCA3, ARSACS, SPG7
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
Speech-ATAXIA: a multinational, multilanguage consortia for speech in hereditary ataxias Adam Vogel All SCAs and ARCAs
Expanding the reach of a digital ataxia biomarker for motor performance Christopher Gomez, James McNames All SCAs & ARCAs