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…
Complications shortly after birth and a slow disease progression — combined with poor disease awareness — delayed a correct diagnosis of Sanfilippo syndrome type A for more than two decades in a 28-year-old man in Germany, a study says. While this type is associated with a faster progression, the…
A Russian military plane crash near Tetiana Zamorska’s home in Kyiv, Ukraine, was a sign that it was time for her and her family to leave. The treacherous, 34-hour pilgrimage that ultimately brought the group of eight by car to temporary accommodations in neighboring Poland last month was physically and emotionally difficult,…
An examination of brain tissue from a mouse model of Sanfilippo syndrome type D revealed several progressive disease-related features, including the altered degradation of energy-producing mitochondria and the abnormal activation of immune cells associated with inflammation and brain cell death, a study reported. Findings show key underlying processes associated…
Brain-in-a-Dish, a research project that aims to develop patient-derived cell models to study Sanfilippo syndrome and identify potential treatments, is now moving to a therapy screening phase. This research update came from Australia’s Sanfilippo Children’s Foundation, which together with the goverment’s Medical Research Future Fund granted a total…
The European Commission is expected to propose a new governing framework for health data next month, called the European Health Data Space (EHDS), with the aim of connecting national health systems to facilitate secure and efficient transfer of data across systems in different European nations. The move is expected to…
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