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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Treatments for lysosomal storage disorders
1Charles Dent Metabolic Unit, Box 92, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK. robin.lachmann@uclh.nhs.uk
Biochemical Society Transactions
|December 2, 2010
Summary
Lysosomal storage disorders (LSDs) are genetic diseases with over 70 types. While new therapies like enzyme-replacement therapy (ERT) and substrate-reduction therapy (SRT) show promise, significant challenges remain, especially for brain-related conditions.
Area of Science:
- Biochemistry
- Genetics
- Pharmacology
Background:
- Over 70 human diseases stem from lysosomal dysfunction.
- Historically, allogeneic hematopoietic stem cell transplantation was the primary therapy for lysosomal storage disorders (LSDs).
Purpose of the Study:
- To review the progress and current landscape of therapeutic strategies for lysosomal storage disorders.
- To highlight the effectiveness and limitations of existing treatments and identify areas of unmet clinical need.
Main Methods:
- Review of licensed treatments for LSDs.
- Discussion of enzyme-replacement therapy (ERT) and substrate-reduction therapy (SRT).
- Exploration of emerging therapeutic approaches, including chaperone molecules.
Main Results:
- Licensed treatments are now available for seven LSDs.
- Enzyme-replacement therapy (ERT) is effective for some enzyme-deficiency disorders but faces challenges in tissue delivery.
- Substrate-reduction therapy (SRT) is licensed, and chaperone molecules for ERT are in late-stage development.
Conclusions:
- Significant advancements have been made in treating LSDs, with multiple therapeutic options emerging.
- Unmet clinical needs persist, particularly for LSDs affecting the central nervous system.
- LSDs are at the forefront of genetic disorder treatment development, with future innovations anticipated.
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