CNS-Targeting Therapies for Lysosomal Storage Diseases: Current Advances and Challenges
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Published on: July 23, 2016
Mariola J Edelmann1, Gustavo H B Maegawa2
1Department of Microbiology and Cell Science, The University of Florida's Institute of Food and Agricultural Sciences, University of Florida, Gainesville, FL, United States.
Abstract:
During the past decades, several therapeutic approaches have been developed and made rapidly available for many patients afflicted with lysosomal storage disorders (LSDs), inborn organelle disorders with broad clinical manifestations secondary to the progressive accumulation of undegraded macromolecules within lysosomes. These conditions are individually rare, but, collectively, their incidence ranges from 1 in 2,315 to 7,700 live-births. Most LSDs are manifested by neurological symptoms or signs, including developmental delay, seizures, acroparesthesia, motor weakness, and extrapyramidal signs. The chronic and later-onset clinical forms are at one end of the continuum spectrum and are characterized by a subtle and slow progression of neurological symptoms. Due to its inherent physiological properties, unfortunately, the blood-brain barrier (BBB) constitutes a significant obstacle for current and upcoming therapies to achieve the central nervous system (CNS) and treat neurological problems so prevalent in these conditions. To circumvent this limitation, several strategies have been developed to make the therapeutic agent achieve the CNS. This narrative will provide an overview of current therapeutic strategies under development to permeate the BBB, and address and unmet need for treatment of the progressive neurological manifestations, which are so prevalent in these inherited lysosomal disorders.
Insights
Lysosomal storage disorders (LSDs) often cause neurological issues. New strategies aim to overcome the blood-brain barrier (BBB) to deliver therapies effectively to the central nervous system (CNS) for LSDs.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Lysosomal storage disorders (LSDs) are inherited conditions characterized by the accumulation of undegraded molecules in lysosomes.
- Neurological symptoms are common in LSDs, significantly impacting patient quality of life.
- The blood-brain barrier (BBB) impedes therapeutic access to the central nervous system (CNS).
Purpose of the Study:
- To review current therapeutic strategies for overcoming the BBB in LSDs.
- To address the unmet need for effective CNS treatments for neurological manifestations of LSDs.
Main Methods:
- Narrative review of existing and emerging therapeutic approaches.
- Analysis of strategies designed to enhance CNS penetration of therapeutic agents.
Main Results:
- Several therapeutic strategies are under development to facilitate CNS drug delivery.
- These strategies aim to bypass or modulate the BBB for improved therapeutic efficacy.
Conclusions:
- Overcoming the BBB is crucial for treating neurological LSDs.
- Continued research into novel delivery methods is essential to address the challenges posed by the BBB in LSDs.
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