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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…
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…
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