Abstract
Substrate reduction therapy (SRT) with miglustat has been proposed for treatment of some lysosomal storage disorders. Based on the positive experience in Gaucher disease and experimental data in Tay-Sachs (TSD) and Sandhoff animal models, the authors investigated the clinical efficacy of SRT in two patients with infantile TSD. SRT could not arrest the patients' neurologic deterioration. However, a significant drug concentration in CSF as well as macrocephaly prevention were observed.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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1-Deoxynojirimycin / analogs & derivatives*
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1-Deoxynojirimycin / therapeutic use
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Craniofacial Abnormalities / prevention & control
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Electroencephalography
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Evoked Potentials, Auditory, Brain Stem
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Evoked Potentials, Visual
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Female
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Humans
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Infant
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Nerve Degeneration / diagnosis
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Nerve Degeneration / etiology
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Nerve Degeneration / physiopathology
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Tay-Sachs Disease / cerebrospinal fluid
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Tay-Sachs Disease / complications
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Tay-Sachs Disease / drug therapy*
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Tay-Sachs Disease / physiopathology*
Substances
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1-Deoxynojirimycin
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miglustat