About Sandhoff Disease
Sandhoff disease is a lysosomal storage disorder caused by mutations in the HEXB gene, leading to deficiency of both beta-hexosaminidase A and B enzymes. This results in accumulation of GM2 gangliosides and related glycolipids in neurons, causing progressive neurological destruction. Unlike Tay-Sachs (which affects only HexA), Sandhoff disease also affects non-neural tissues, causing visceral involvement including hepatosplenomegaly.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Sandhoff Disease trials.
Hexosaminidase A and B enzyme activity levels must both be documented for trial eligibility confirmation
Sandhoff and Tay-Sachs are biologically similar — some GM2 gangliosidosis trials enroll both; confirm which forms are accepted
Substrate reduction therapy with miglustat has been studied — prior SRT use may be an exclusion criterion in some trials
Infantile-onset patients have a narrow enrollment window; contact trial coordinators early after diagnosis
Patient Resources
Find recruiting Sandhoff Disease trials
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