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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…
Sanfilippo syndrome type A was found to be the most predominant form of the rare genetic disorder in Korea in the country’s first natural history study of this patient population. A potential Sanfilippo syndrome diagnosis should be considered when patients show neurodegenerative symptoms such as language and…
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…
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…
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…
The case of a Mexican youth with Sanfilippo syndrome type B who presented with atypical symptoms of the disease, including growth arrest, sex hormone deficiencies, and a heart defect has been reported by researchers. These previously undescribed manifestations, along with lack of access in Mexico to enzymatic confirmatory tests…
Most children with Sanfilippo syndrome type B show predictable downward trajectories in cognitive function, behavior, and brain volume that resemble those of children with rapidly progressing type A, according to data from two natural history studies. Also, most reach their lowest cognitive and adaptive behavior scores by age 8…
Levels of a protein called cystatin C are elevated in the lungs of people with Sanfilippo syndrome and related diseases, and higher levels of it are associated with worse respiratory function in these patients, a new study reports. The findings also show that heparan sulfate, the molecule that accumulates…
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