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Children with Sanfilippo syndrome type A who were treated with the investigational gene therapy LYS-SAF302 before 2.5 years of age showed improvements in cognitive development compared to what is expected without treatment, according to top-line data from the Phase 2/3 AAVance clinical trial. However, the trial did not meet its…
A never-before-reported mutation in the gene NAGLU was found to cause Sanfilippo syndrome type B in an 8-year-old girl in Saudi Arabia. “To the best of our knowledge, this is the first report of Sanfilippo syndrome type B from Saudi Arabia,” researchers said. The case was described in the report,…
From joining the “Hands of Hope” challenge to adding a Facebook profile frame, supporters globally are poised to mark World Sanfilippo Awareness Day, observed each Nov. 16 to bring attention to the genetic disorder thought to affect one in 70,000 individuals. The awareness campaign targets the general public…
According to parents of children with Sanfilippo syndrome, developmental delays, hyperactivity, sleep disturbances, hearing loss, and recurrent infections were the most common features of the condition. This study adds to the natural history of Sanfilippo syndrome and underscores the vital role parents and caregivers play in disease research, the…
Later this month, the Czech government will host a conference where Deputy Minister of Health Jakub Dvořáček will present a call to action and proposal for a European Action Plan for Rare Diseases — a systemic framework for the European Union to better care for people with rare diseases like…
When assessing bone density in people with conditions like Sanfilippo syndrome, it is necessary to account for impaired growth, which is common in these patients, a new study highlights. The results also indicate many people with Sanfilippo and related conditions have low levels of vitamin D, showing a need…
Children with Sanfilippo syndrome have altered growth patterns — starting at birth, when infants with the genetic disorder are usually longer than the average newborn in the general population, a new study found. But while the results showed overall variations in the growth dynamics for Sanfilippo children, researchers said…
Tralesinidase alfa (AX 250), an experimental enzyme replacement therapy for Sanfilippo syndrome type B that’s now in clinical trials, was found to improve cognition and reduce brain shrinkage in a dog model of the disease, a new study reports. “The data presented here support the current human clinical…
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…
A short, intense course of eye movement desensitization reprocessing therapy, called EMDR, can help to lessen symptoms of trauma and stress in parents of children with Sanfilippo syndrome, according to a small clinical trial. “Based on the large effect sizes and persistence of the effects found for EMDR in…
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