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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…
The antidepressant fluoxetine was able to improve cognition and reduce the buildup of toxic molecules in a mouse model of Sanfilippo syndrome type A, a group of researchers in Italy has found. “We repurposed fluoxetine for potential therapeutics to treat human MPS-IIIA [Sanfilippo type A] disease,” the researchers wrote.
A team led by researchers at Lysogene has developed a system of four “stages” to describe the severity of Sanfilippo syndrome type A using insights gleaned from interviews with parents of children with the disease. The results were described in the study, “Understanding disease symptoms and…
The National Organization for Rare Disorders’ (NORD) “Living Rare, Living Stronger Patient and Family Forum” is back in person on June 26 for a day of learning and networking in Cleveland, Ohio. The event, which brings together the rare disease community, will take place at the InterContinental Cleveland Conference…
Communication challenges and mobility difficulties are among the most impactful symptoms for children with Sanfilippo syndrome, caregivers reported in a study. Results from the study, which was funded by the Cure Sanfilippo Foundation, could be used to inform outcome measures in clinical trials for potential treatments. The study,…
Ultragenyx Pharmaceutical has closed an agreement giving it global licensing, manufacturing, and commercialization rights to UX111 (formerly ABO-102), an experimental gene therapy for Sanfilippo syndrome type A being tested in the pivotal Phase 1/2 Transpher A trial. Ultragenyx will assume responsibility for UX111’s clinical program, while the therapy’s developer, …
The Cure Sanfilippo Foundation is supporting a research project that aims to characterize fruit fly models of Sanfilippo syndrome type A, and to identify genes that affect disease development in these models. The two-year study is being led by Trudy Mackay, PhD, a professor of…
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