Meeting Banner
Abstract #5421

Quantitative 1H Single Voxel Spectroscopy In Metachromatic Leukodystrophy Patients Treated With Haematopoietic Stem Cell Gene Therapy: Preliminary Results

Paola Scifo1, Pasquale Anthony Della Rosa2, Matteo Canini2, Francesca Fumagalli3,4,5, Valeria Calbi3,4, Andrea Falini6, Alessandro Aiuti3,4,7, and Cristina Baldoli6

1Nuclear Medicine Dept., IRCCS San Raffaele Scientific Institute, Milan, Italy, 2Neuroradiology Unit and CERMAC, IRCCS San Raffaele Scientific Institute, Milan, Italy, 3San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), IRCCS San Raffaele Scientific Institute, Milan, Italy, 4Unit of Pediatric Immunohematology and BMT Program, IRCCS San Raffaele Scientific Institute, Milan, Italy, 5Neurology Dept., IRCCS San Raffaele Scientific Institute, Milan, Italy, 6Neuroradiology Unit and CERMAC, Vita Salute San Raffaele University and IRCCS San Raffaele Scientific Institute, Milan, Italy, 7Vita Salute San Raffaele University, Milan, Italy

The efficacy of Haematopoietic Stem Cell-Gene Therapy for Metachromatic Leukodystrophy is under evaluation. CNS damage is currently rated by means of visual MR severity scores. The aim of this study was to investigate whether quantitative spectroscopy measurements correlate with MR severity scores. This preliminary analysis shows that both NAA/Cr and NAA/Cho ratios are associated with progression in total MR Severity Score, Atrophy and Demyelination Load. This suggests that MR spectroscopy could be useful to longitudinally and quantitatively evaluate the disease burden in MLD patients.

This abstract and the presentation materials are available to members only; a login is required.

Join Here

Abstract