Author Archives: Emily Malcolm, PhD

Seizures in Sanfilippo Syndrome

Sanfilippo syndrome is a rare genetic disorder characterized by mental and developmental disabilities. Patients are unable to break down a complex sugar molecule called glycosaminoglycans (GAGs), also called mucopolysaccharides. The buildup of these molecules leads to the symptoms of Sanfilippo syndrome. In later stages of the disease, patients…

Sanfilippo Syndrome Type A Versus Type B

Sanfilippo syndrome (also called MPS III) is a rare genetic disease characterized by neurodegeneration, or the death of nerve cells. There are four subtypes of Sanfilippo syndrome, marked as A, B, C, and D. Patients have one of these types based on their genetic mutations. Sanfilippo syndrome…

Clinical Trials and Sanfilippo Syndrome

Patients with rare diseases like Sanfilippo syndrome can help with research into treatments for the disease by participating in clinical trials. They may also have access to new treatments being developed, which would otherwise not be available to them. What are clinical trials? Clinical trials are research…