Neurodegeneation treatment in lysosomal diseases. An update

Abstract

Lysosomal diseases are a set of rare diseases where the genetic deficiency of certain enzymes gives rise to the accumulation of substrates at the multi-organ level. The treatment of these inborn errors of metabolism is still under continuous investigation since when they exist, they present limitations trying to increase the synthesis of the enzyme or decrease the deposit of substrate, without reaching the definitive solution, and therefore a cure. The progressive and limiting neurodegeneration that most of them produce from pediatric ages, is one of the greatest challenges. Hematopoietic cell transplantation and enzyme replacement therapy are accepted treatments for some of these diseases; however,its results on the control and progression of neurological symptoms often remain disappointing. Undoubtedly, crossing the blood-brain barrier is one of the obstacles that many clinical trials currently underway aim to overcome. Gene therapy and neurophysiological pathways triggered by the lack of partial or total degradation of molecules also constitute a new avenue of study whose main objective is also based on preventing progression in the deterioration of cognitive function. Therefore, the objective of this work is to carry out a review to know the approved therapies and the lines of research in progress in relation to the neurodegeneration of lysosomal diseases and It is essential to continue advancing in this field with further development of these approaches and the search new perspectives on therapies that can have a great impact on the quality of life of these patients.