“What would Liv want?” This is a question I ask myself every day. Our 6-year-old daughter, Liv, has a neurodegenerative genetic disorder called Sanfilippo syndrome. She can no longer say yes or no, point to what she wants, or even nod her head. What does she want to wear?…
A single dose of UX111 (rebisufligene etisparvovec), an experimental gene therapy being developed by Ultragenyx Pharmaceutical, reduces the toxic buildup of heparan sulfate for more than eight years and helps children with Sanfilippo syndrome type A maintain or improve developmental skills, particularly when administered early. These long-term results…
Sanfilippo syndrome is a genetic disorder that leads to a form of childhood dementia. Learn more about the disease here.
Sanfilippo is caused by mutations in one of four genes that produce the enzymes needed to break down heparan sulfate. Learn more about what causes the disease here.
Symptoms range from behavioral problems to developmental delays and sleep issues. Learn more about the symptoms of the disease here.
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