Precision Medicine in Fabry Disease: Integrating both Established and Emerging Therapeutic Strategies

Details

Supervisors

Gillion, Valentine

Faculty

Faculté de pharmacie et des sciences biomédicales

Degree label

Master [60] en sciences biomédicales

Abstract

enFabry Disease is an X-linked complex, multi-organ progressive lysoso mal disorder caused by variants in the GLA gene that lead to deficiency or loss of enzy matic activity of α-galactosidase A. Years now there have been available therapies regard ing FD, such as ERTs and/or pharmacological chaperone therapy. However, because of the clinical and molecular heterogeneity of the disease as well as because of unmet needs further research on the currently new and emerging therapies is deemed necessary. The heterogeneity of the disease such as gender, age, genotype-phenotype correlation, re sponse to established treatment has led to the development of more individualized ther apeutic approaches which are currently being approved or are still under investigation. However, the therapeutic approaches so far have limitations and thus the need for a more personalized approach is required. In this literature review, a more analytical approach towards genetics, pathophysiology, diagnosis, current and future therapeutic patterns is suggested. Additionally, the aim of this literature review is to critically present current and emerging therapeutic strategies for FD and to evaluate how these approaches con tribute to the implementation of precision medicine in clinical practice.