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2006•NeurologyRequires access

Substrate reduction therapy in the infantile form of Tay-Sachs disease

Bruno Bembi, Federico Marchetti, Veronica Ileana Guerci, Giovanni Ciana, Riccardo Addobbati, Domenico Leonardo Grasso, Rita Barone, Roberta Cariati, Luisa Fernandez-Guillen, Terry D. Butters, María Gabriela Pittis

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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.

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What this paper is about

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.

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OpenAlex reports 75 citations for this work. Citation counts describe recorded attention and do not establish research quality.

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Available 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.

Key concepts: Tay-Sachs disease, Reduction (mathematics), Medicine, Substrate (aquarium), Disease, Pediatrics, Biology, Pathology

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