Primary Outcome Measures:
- concentration of miglustat in plasma at periodic intervals up to 24 hours
Secondary Outcome Measures:
- changes in volume loss and signal intensity from baseline MRI to 12 months
- change in single-voxel N acetylaspartate (NAA) from baseline MRS to 12 months
- change in neuropsychological testing
- change in nerve conduction at 12 months
- change in neurological examination at 12 months
The GM2 gangliosidoses are a group of neuro-degenerative lysosomal storage diseases resulting from accumulation of GM2 and related glycolipids in the central nervous system (CNS). Tay-Sachs and Sandhoff disease are two variants which are indistinguishable in clinical grounds. According to the onset and rate of disease progression, the condition can be categorized in infantile, juvenile and adult forms. This open-label, single-arm study is designed to assess the pharmacokinetics, safety and tolerability of miglustat in juvenile patients. Miglustat will be administered at a maximum dose of 600 mg/day, divided into three doses per day. The dose used for patients in this pediatric age range will be related to the patient’s body surface area. The pharmacokinetics assessments for the study will be performed in-hospital during a 24 hour period, and will take place at the day one and at the month 3 visits. The clinical (which includes safety and tolerability) assessments will be performed throughout the 24-month study period.