Mutations in genes encoding proteins involved in lysosomal function cause lysosomal storage diseases (LSDs), a group of about 50 inherited disorders characterized by the progressive accumulation of undegraded substrates inside the lysosome. Patients with LSDs present with a debilitating, multisystemic phenotype often associated with early-onset neurodegeneration. Unfortunately, therapeutic options are still inefficient or simply unavailable for most LSDs. The pathological cascade, leading from the storage of undegraded material to cellular and tissue dysfunction and clinical symptoms, has yet to be fully elucidated. Thus, a better understanding of the pathogenic events underlying disease progression and the mechanisms of disease correction upon treatment, through investigation in relevant disease models, would aid the development of safe and more effective therapeutic approaches. In addition, the implementation of newborn screening protocol, the identification of reliable biomarkers and objective measures of disease progression, and the improvement of current gene/cell therapy experimental approaches are important topics that require attention in the perspective of improving therapeutic options.
This Research Topic will focus on the recent development in the study and treatment of lysosomal storage diseases (LSDs) using innovative gene- and cell-based platforms and combined approaches (including pharmacological therapy) aimed to comprehensively target these multi-systemic diseases, the vast majority of which display a severe and hardly treatable CNS pathology. The focus will be on demyelinating and neurodegenerative LSDs that currently have no real therapeutic options.
The Research Topic welcomes the contribution of review articles and original research reports on themes that include, but are not limited to:
• Molecular and cellular mechanisms underlying LSDs that could represent potential therapeutic targets
• Novel/advanced LSD modelling (in vitro and in vivo)
• Development of innovative gene/cell therapeutic strategies for LSDs
• Results of clinical trials in LSD patients
• Experimental procedures or technology development aimed at understanding or treating LSDs
Mutations in genes encoding proteins involved in lysosomal function cause lysosomal storage diseases (LSDs), a group of about 50 inherited disorders characterized by the progressive accumulation of undegraded substrates inside the lysosome. Patients with LSDs present with a debilitating, multisystemic phenotype often associated with early-onset neurodegeneration. Unfortunately, therapeutic options are still inefficient or simply unavailable for most LSDs. The pathological cascade, leading from the storage of undegraded material to cellular and tissue dysfunction and clinical symptoms, has yet to be fully elucidated. Thus, a better understanding of the pathogenic events underlying disease progression and the mechanisms of disease correction upon treatment, through investigation in relevant disease models, would aid the development of safe and more effective therapeutic approaches. In addition, the implementation of newborn screening protocol, the identification of reliable biomarkers and objective measures of disease progression, and the improvement of current gene/cell therapy experimental approaches are important topics that require attention in the perspective of improving therapeutic options.
This Research Topic will focus on the recent development in the study and treatment of lysosomal storage diseases (LSDs) using innovative gene- and cell-based platforms and combined approaches (including pharmacological therapy) aimed to comprehensively target these multi-systemic diseases, the vast majority of which display a severe and hardly treatable CNS pathology. The focus will be on demyelinating and neurodegenerative LSDs that currently have no real therapeutic options.
The Research Topic welcomes the contribution of review articles and original research reports on themes that include, but are not limited to:
• Molecular and cellular mechanisms underlying LSDs that could represent potential therapeutic targets
• Novel/advanced LSD modelling (in vitro and in vivo)
• Development of innovative gene/cell therapeutic strategies for LSDs
• Results of clinical trials in LSD patients
• Experimental procedures or technology development aimed at understanding or treating LSDs