News

Sanfilippo Growth Impairments Milder Than Other MPS Types

Children with Sanfilippo syndrome have impaired growth compared with the general population, but these deviations are milder than those observed with other types of mucopolysaccharidoses (MPS), a study found. The study, which spanned more than 30 years, found that children with MPS were significantly longer than healthy children at…

Added Mutation in Sanfilippo Linked to Worse Symptoms for 1 Sibling

The case of two siblings with Sanfilippo syndrome type B who had the same disease-causing mutations but showed dramatically different developmental trajectories was described in a recent report. Genetic analyses revealed an additional gene mutation in the younger child — one causing another rare disease characterized by developmental delays…

A New Video Adds to the ‘Help Simon’ Fundraising Story

In March, after Alina and Jeremy Croke shared a TikTok video that communicated their $1 million goal to help find a treatment for their young son, Simon, and others who have Sanfilippo syndrome, they were taken aback by the support. The video went viral. What truly surprised the…

SOBI003 Safe, Reduces Heparan Sulfate Levels in 1st Trial in Humans

Treatment with SOBI003, a now-discontinued experimental therapy for Sanfilippo syndrome type A, was generally well-tolerated and reduced heparan sulfate levels in a clinical trial. “These are very important findings that could inform future trials and therapeutic development programs targeted at reduction of heparan sulfate. They also provide important information…