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Abstract #3497

Utility of thalamic nuclei segmentation in targeted delivery of gene therapy using intrathalamic injections in Tay-Sachs disease patients

Mohammed Salman Shazeeb1, Manojkumar Saranathan1, Anna Luisa Kuhn1, Rrita Daci1, Becca Artinian1, Oguz Cataltepe1, and Terence Flotte1
1University of Massachusetts Chan Medical School, Worcester, MA, United States

Synopsis

Keywords: Rare Disease, Rare disease

Motivation: Clinical outcomes from gene therapy treatment of Tay-Sachs disease patients using bilateral intrathalamic injections in the brain are unknown.

Goal(s): We will perform a retrospective analysis on Tay-Sachs patients that received bilateral intrathalamic injections and identify the thalamic nuclei regions that intersect with the adeno-associated virus (AAV) vector distribution.

Approach: We will use a histogram-based polynomial synthesis method to synthesize white-matter nulled images from standard T1 images to improve intrathalamic contrast prior to multi-atlas segmentation and reconstruct them with the AAV vector distribution overlay in 3D to precisely identify the target delivery regions within the thalamus.

Impact: This study will advance precision targeting of intrathalamic injections in Tay-Sachs gene therapy that can provide insights into AAV vector distribution within the thalamus, refine delivery techniques, improve clinical outcomes, and inspire new questions about targeted therapy in neurodegenerative disorders.

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Keywords