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…
News
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…
A mouse model of Sanfilippo syndrome had persistent energy demands driven by activated heat-generating fat cells and impaired recycling of energy-producing mitochondria, a study revealed. These findings may explain the negative energy balance seen in Sanfilippo patients, which can lead to wasting in severe cases, despite adequate food intake,…
Nonprofits, scientists, governmental organizations, and the rare disease drug development industry have long cited 7,000 as the average number of rare diseases in the world. But a new analysis shows there are as many as 10,867 rare diseases globally. And that…
Children with Sanfilippo syndrome type A, including those with severe disease, showed stable or continuously increasing cognitive, language, and motor functions two years after dosing with the investigational gene therapy LYS-SAF302, new data from the AAVance trial showed. The therapy also maintained low levels of the disease-related biomarker heparan sulfate…
Sanfilippo syndrome affected the hearts of two sisters with the rare genetic disorder, without causing any of its more typical neurological symptoms, according to a case report. The case highlights the importance of recognizing — and treating — such rare non-neuronal manifestations of the disease, the researchers said. “Early…
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