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Goal-oriented therapy with miglustat in Gaucher disease
Gregory M Pastores1, Pilar Giraldo, Patrick Chérin
1Neurology and Pediatrics, New York University School of Medicine, New York, NY 10016, USA. gregory.pastores@med.nyu.edu
Current Medical Research and Opinion
|February 13, 2009
Summary
Miglustat therapy can help achieve therapeutic goals for Gaucher disease type 1 (GD1), improving hematological and bone manifestations. It offers a potential alternative to enzyme replacement therapy (ERT) for select GD1 patients.
Area of Science:
- Rare genetic disorders
- Lysosomal storage diseases
- Metabolic disorders
Background:
- Gaucher disease (GD) is a heterogeneous multisystem disorder.
- Therapeutic goals for type 1 GD (GD1) were established in 2004.
- Enzyme replacement therapy (ERT) using imiglucerase has been a primary treatment.
- Miglustat is a substrate reduction therapy (SRT) for GD1.
Purpose of the Study:
- Review available data on miglustat for GD1.
- Provide guidance on achieving GD therapeutic goals with miglustat.
Main Methods:
- Literature search of MEDLINE, HighWire Press, and Google Scholar.
- Used terms 'miglustat' and 'Gaucher disease type 1'.
Main Results:
- Miglustat therapy improves hematological manifestations and organomegaly, achieving long-term stabilization.
- Miglustat maintains stability in mild to moderate GD1 patients previously on ERT.
- Miglustat benefits bone manifestations, reducing bone pain and improving bone mineral density within 24 months.
Conclusions:
- Miglustat therapy can achieve several therapeutic goals for GD1.
- Miglustat is a potential alternative to ERT for select GD1 patients.
- Long-term data will define miglustat's role in managing adult GD1 patients.
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