District of Columbia
We want to see if Zavesca (or miglustat) is safe and can be tolerated by patients with acute
infantile onset GM2 gangliosidosis - classical Tay-Sachs and infantile onset Sandhoff
disease. We know that miglustat inhibits the formation of GM2 ganglioside, the compound
that is stored in the brains of children with Tay-Sachs and Sandhoff disease. Since it
inhibits the synthesis of ganglioside, miglustat may be able to reduce or delay the onset of
The primary objective of the study is to investigate the pharmacokinetics of ZAVESCA®
(miglustat, OGT918), when given as a single dose and at steady state, in infantile patients
with GM2 gangliosidosis. The secondary objectives are to evaluate the tolerability and
safety of single and multiple doses of miglustat and to monitor disease progression using
physical and developmental assessments and disease-specific biomarkers.
1. Diagnosis of GM2 gangliosidosis, confirmed by demonstration of profound deficiency of
-hexosaminidase A or A & B in peripheral blood leukocytes or in cultured skin
fibroblasts, within the previous 1 year in non-bone marrow transplant recipients who
are < 2 years of age, or prior to stem cell transplant in stably engrafted transplant
patients who are < 5 years of age.
2. Onset of characteristic clinical symptoms of the disease before the age of 9 months.
3. Normal renal and hepatic function.
4. Written informed consent from parent or legal guardian.
1. Patients who are unable to comply with the study procedures of this protocol,
including the refusal to swallow the food used to mask the taste of the study drug
and whose parents are unwilling to administer the drug through a nasogastric or
2. Patients receiving other investigational agents within 3 months of study initiation.
3. Patients who are anemic (hemoglobin < 11 g/dl, and/or hematocrit < 34%)
4. Patients who have a history of significant gastrointestinal disorders, including
clinically significant diarrhea (>3 liquid stools per day for > 7 days), without
definable cause within 3 months of baseline visit.
5. Patients with a high probability of dying during the 6-month assessment period of the
6. Patients who in the opinion of the investigator (for whatever reason) are thought to
be unsuitable for the study.