Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: Results of a 3-year follow-up

Marcella Masciullo, Massimo Santoro, Anna Modoni, Enzo Ricci, Jerome Guitton, Pietro Tonali, Gabriella Silvestri

Research output: Contribution to journalArticle

Abstract

GM2 gangliosidosis type Sandhoff is caused by a defect of beta-hexosaminidase, an enzyme involved in the catabolism of gangliosides. It has been proposed that substrate reduction therapy using N-butyl- deoxynojirimycin (miglustat) may delay neurological progression, at least in late-onset forms of GM2 gangliosidosis. We report the results of a 3-year treatment with miglustat (100 mg t.i.d) in a patient with chronic Sandhoff disease manifesting with an atypical, spinal muscular atrophy phenotype. The follow-up included serial neurological examinations, blood tests, abdominal ultrasound, and neurophysiologic, cognitive, brain, and muscle MRI studies. We document some minor effects on neurological progression in chronic Sandhoff disease by miglustat treatment, confirming the necessity of phase II therapeutic trials including early-stage patients in order to assess its putative efficacy in chronic Sandhoff disease.

Original languageEnglish
JournalJournal of Inherited Metabolic Disease
Volume33
Issue numberSUPPL. 3
DOIs
Publication statusPublished - 2010

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Medicine(all)

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