On Sept. 13, “7News Spotlight” aired a special investigation titled “‘Miraculous in her averageness’: The young girl who could hold the key to curing dementia.” It highlights a beautiful 9-year-old girl from Australia named Tilly who has Sanfilippo syndrome. This neurodegenerative, terminal, genetic disorder is often referred to…
Discussion
A clinical trial testing an experimental treatment for Sanfilippo syndrome type B is recruiting participants in the U.S. The Phase 1/2 study (NCT07640984) testing JR-446 is sponsored by JCR Pharmaceuticals. Researchers expect to recruit about a dozen kids with Sanfilippo B, ages 5 and younger, who meet…
Discussion
The U.S. Food and Drug Administration (FDA) approved the gene therapy Fayuvi (rebisufligene etisparvovec-hopf, formerly known as UX111) as the first treatment for Sanfilippo syndrome type A. Ultragenyx Pharmaceutical said it expects the drug to be shipped to qualified treatment centers (QTCs) — institutions with expertise and training…
Discussion
My son, Liam, has started asking more questions about why his sister behaves differently from his friends. I knew this time would come, when I’d have to start answering the “why” questions. My daughter, Liv, has Sanfilippo syndrome, a neurodegenerative genetic disorder. She is 6 years old, but her…
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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