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Enzyme replacement in neuronal storage disorders in the pediatric population
Erika F Augustine1, Jonathan W Mink
1Department of Neurology, University of Rochester Medical Center, 601 Elmwood Avenue, Box #631, Rochester, NY, 14642, USA, erika_augustine@urmc.rochester.edu.
Current Treatment Options in Neurology
|August 20, 2013
Summary
Enzyme replacement therapy (ERT) has shifted lysosomal storage disease treatment but has limitations, especially for central nervous system symptoms. New therapies like gene therapy are emerging for better disease modification.
Area of Science:
- Biochemistry and Genetics
- Pharmacology and Therapeutics
- Neurology and Rare Diseases
Background:
- Lysosomal storage diseases (LSDs) treatment has evolved from symptom management to disease modification over 15 years.
- Enzyme replacement therapy (ERT) is a key advancement but is available for limited LSDs and is not a cure.
Purpose of the Study:
- To review the impact and limitations of ERT in managing LSDs.
- To explore emerging therapeutic strategies for LSDs, particularly those affecting the central nervous system.
Main Methods:
- Review of current literature on ERT for lysosomal storage diseases.
- Analysis of the efficacy and challenges of existing and novel treatment approaches.
Main Results:
- ERT has shown variable benefits across different LSDs, with modest impact in some cases.
- No significant improvements in central nervous system manifestations of LSDs have been observed with current ERT.
- Long-term effects and optimal timing for ERT initiation require further investigation.
Conclusions:
- While ERT has advanced LSD treatment, its efficacy is limited, especially for neurological symptoms.
- Novel strategies such as intrathecal enzyme replacement, gene therapy, and substrate reduction therapy show promise for future nervous system disease modification in LSDs.
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