Steve Bryson, PhD, science writer —

An examination of brain tissue from a mouse model of Sanfilippo syndrome type D revealed several progressive disease-related features, including the altered degradation of energy-producing mitochondria and the abnormal activation of immune cells associated with inflammation and brain cell death, a study reported. Findings show key underlying processes associated…

Nerve cells in brain tissue from a Sanfilippo syndrome type C mouse model — in early stages of the disease — found structural abnormalities and deficits in nerve cell signaling. These impairments, the study’s scientists said, might underlie the early learning and behavior symptoms seen in Sanfilippo patients. The study, “…

Altered heparan sulfate metabolism, the underlying cause of Sanfilippo syndrome, leads to dopamine-dependent and autistic-like behaviors in mouse models, a study reported. Treatment with compounds that blocked dopamine-related pathways rescued hyperactive behaviors and social deficits in these mice, suggesting that dopamine-related therapies may ease the severe autistic-like behaviors seen…

The Cure Sanfilippo Foundation is encouraging the U.S. Food & Drug Administration (FDA) to consider Sanfilippo syndrome as a candidate for the agency’s accelerated approval pathway. According to a recent foundation-led study, families of Sanfilippo children are willing to accept modest treatment benefits even if they come…

Cure Sanfilippo Foundation has granted $380,000 to the New York-based biotechnology company Phoenix Nest to support the development of the first-ever gene therapy to treat children with the rare genetic neurodegenerative disease Sanfilippo syndrome type C…

An 11-year-old girl with Sanfilippo syndrome type A who received a stem cell transplant as an infant maintained her cognitive skills and motor function, and improved her quality of life compared to six children who did not have the transplant, a case study reports. In the…

Two types of nerve cells, namely neurons and astrocytes, with Sanfilippo syndrome-like characteristics have been created by converting stem cells with disease-associated mutations, according to a study from researchers in Europe. Compared to cell lines currently used in Sanfilippo…

Medical records of children with diseases related to the buildup of glycosaminoglycans, including Sanfilippo syndrome, show that spinal fusion surgery helped to ease the damage associated with these conditions, a study reported.   Its researchers recommend early spinal cord decompression to prevent or reverse neurological injuries. …

Seelos Therapeutics announced it will meet with the European Medicines Agency (EMA) in March to seek scientific advice and assistance for a European clinical study of SLS-005 (trehalose) in patients with Sanfilippo syndrome…