JCI Reduced heparan sulfate levels in cerebrospinal fluid reflect brain neuron correction in Sanfilippo B mice

Enzyme therapy directly into the brain tested for Sanfilippo type D

Delivering a lab-made version of the missing enzyme in Sanfilippo syndrome type D directly into the brain reduced toxic heparan sulfate buildup, a key Sanfilippo event, and eased signs of inflammation in a mouse model of the disease, a new study reports. These benefits were observed even when the treatment was given on a schedule designed to mimic a real-world regimen in patients, “demonstrating preclinical efficacy for [Sanfilippo syndrome type…

JCI Reduced heparan sulfate levels in cerebrospinal fluid reflect brain neuron correction in Sanfilippo B mice