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Emerging drugs for lysosomal storage diseases
1University of Mainz, Children's Hospital, Langenbeckstrasse 1, Mainz, Germany. beck@kinder.klinik.uni-mainz.de
Expert Opinion on Emerging Drugs
|June 19, 2010
Summary
New drugs for lysosomal storage disorders are emerging, targeting enzymes or substrates to combat rare metabolic diseases. While treatments improve, a cure remains distant, posing health economic challenges.
Area of Science:
- Biochemistry
- Pharmacology
- Genetics
Background:
- Orphan drug regulations have spurred development of treatments for rare lysosomal storage disorders.
- Current therapies address some aspects but do not cure these multisystemic diseases.
- Novel therapeutic strategies are needed to prevent storage material accumulation.
Purpose of the Study:
- To provide an overview of existing and developing drugs for lysosomal storage disorders.
- To enhance understanding of the pathophysiological mechanisms of these rare metabolic diseases.
- To highlight the potential health economic impact of novel, expensive treatments.
Main Methods:
- Literature research from 1968-2010.
- Categorization of new compounds into enzyme-targeted and substrate-targeted drugs.
- Review of therapeutic approaches including enzyme modification, chaperones, read-through inducers, substrate deprivation, and substrate optimization.
Main Results:
- Overview of marketed and investigational drugs for lysosomal storage disorders.
- Insights into pathophysiological mechanisms driving these rare metabolic diseases.
- Recognition of the significant health economic implications of increasingly available, costly treatments.
Conclusions:
- Significant increase in research and drug development for lysosomal storage disorders.
- Drugs target various stages of the pathophysiological cascade, including substrate and enzyme levels.
- Complete cures for lysosomal storage disorders are not yet available, necessitating continued research.
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