Most children with Sanfilippo syndrome type A who received the one-time gene therapy UX111 early in life in a clinical trial continue to show cognitive development gains beyond the age where patients usually start regressing. These improvements were associated with reductions in heparan sulfate (HS) in the children’s cerebrospinal fluid…
Developing biomarkers may help support accelerated federal approval for treatments in Sanfilippo syndrome and related diseases. That was the subject of an in-person and virtual workshop last month by the Reagan-Udall Foundation for the Food and Drug Administration that discussed primary disease activity biomarkers and focused on…
Researchers are calling for individualized clinical trials that would test the effects of anti-inflammatory therapies for Sanfilippo syndrome and related conditions. A team of scientists from Europe has published a paper that outlines how such trials can be conducted and offered recommendations for specific therapies to test in specific…
My husband and I just returned from a wonderful Christmas vacation away from home. We enjoyed time with friends, relaxed, and took advantage of the opportunity to do what we wanted for several days. We were only able to do this because we had caregivers at home for our daughter…
They had a son they adored, and now Cara and Glenn O’Neill longed for a girl. After a couple of miscarriages, they were overjoyed at the birth of Eliza. But 3 1/2 years later, their daughter was diagnosed with Sanfilippo syndrome. After establishing a foundation and raising more than…
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