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Abstract #3023

Feasibility of a short but comprehensive MRI protocol for quantitative characterization of progressive neurodegeneration in Friedreich ataxia

Koene R.A. Van Dijk1, Courtney A. Bishop2, James O’Callaghan2, James A. Goodman1, Laigao Chen1, Peter T. Loudon3, Lawrence Charnas4, Eugenii A. Rabiner2, and Richard Festenstein5
1Digital Medicine and Translational Imaging, Early Clinical Development, Pfizer, Cambridge, MA, United States, 2Invicro, London, United Kingdom, 3Clinical Sciences, Early Clinical Development, Pfizer, Cambridge, United Kingdom, 4Rare Disease Research Unit, Pfizer, Cambridge, MA, United States, 5Department of Brain Sciences, Imperial Clinical Research Facility and BRC (NIHR), Imperial College London, London, United Kingdom

We report on feasibility of a short but comprehensive 3T brain MRI protocol in Friedreich ataxia. The multi-parametric protocol includes measures of anatomy, iron content, several indices of white matter, and brain metabolites. The scan session, lasting less than 60 minutes, was tolerated well by all 8 patients who had varying degrees of ataxia symptomatology, and provided good quality imaging data for the majority of sequences and patients. This protocol allows non-invasive quantitative characterization of progressive neurodegeneration in cerebral and cerebellar structures in patients with Friedreich ataxia suggesting the potential for rich, longitudinal phenotyping in this population.

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