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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…
The National Organization for Rare Disorders (NORD) has updated its State Report Card to make it more digitally friendly and added telehealth to its categories of rare disease policy issues in a nod to its increased use during the ongoing COVID-19 pandemic. NORD’s report card project began seven…
A film crew visited Alina and Jeremy Croke’s Texas home last spring to make a video about their young son, Simon, in hopes of raising $1 million to help find a treatment for Sanfilippo syndrome type B. That video, his parents hoped, might help to save 5-year-old Simon’s life.
A clinical trial that had been testing the experimental gene therapy ABO-102 in people with advanced syndrome type A has ended after an analysis indicated the therapy was not significantly improving neurological or cognitive functioning. “All of us here at the Society and in the MPS community are deeply…
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