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Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3‐year follow‐up
Author(s) -
Masciullo Marcella,
Santoro Massimo,
Modoni Anna,
Ricci Enzo,
Guitton Jerome,
Tonali Pietro,
Silvestri Gabriella
Publication year - 2010
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-010-9186-3
Subject(s) - sandhoff disease , gangliosidosis , medicine , substrate reduction therapy , hexosaminidase , enzyme replacement therapy , disease , biology , biochemistry , enzyme
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.