Parents of children with Sanfilippo syndrome place high value on therapies that provide even modest benefits to a narrower set of symptoms than most clinical trials address, according to a recent study. Understanding the impacts felt by caregivers and their treatment priorities can help determine the outcomes measured in…
News
The two COVID-19 vaccines that recently received emergency approval from the U.S. and other worldwide regulatory agencies are expected to pose little risk to the rare disease community, including to patients with compromised immune systems or those participating in gene therapy studies. That was the message of a recent…
Caring for a loved one with a rare disease, especially during these uncertain times, demands significant time, attention, patience, and dedication. To help meet that need, the National Organization for Rare Disorders (NORD)’s Rare Caregiver Respite Program may be a helpful resource. The program seeks to give a…
All nine Sanfilippo type A patients analyzed to date in the ongoing Phase 2/3 clinical trial of the gene therapy LYS-SAF302 show reductions in the levels of heparan sulfate (HS), Lysogene, the therapy’s developer, reported. These reductions were specifically observed in…
A gene therapy delivered through a more effective viral carrier safely and effectively corrected enzymatic deficiency, restored cognitive and motor function, and improved survival in a mouse model of Sanfilippo syndrome type A, a study shows. The findings suggest this may…
Looking at the tissue of the retina — the innermost, light-sensitive layer of the eye — may be a way to monitor Sanfilippo progression and treatment outcomes, a study has found. In a mouse model of the disease retinal lesions emerged very early, even before the appearance of…
The National Organization for Rare Disorders (NORD) is seeking individuals willing to share real-life experiences with rare diseases to speak at its upcoming virtual Living Rare, Living Stronger NORD Patient and Family Forum. The interactive, patient-focused forum will be held online June 26-27. The deadline to apply for…
Preliminary results from the first patient treated with Orchard Therapeutic’s OTL-201 show that the investigational gene therapy can increase the levels of sulfamidase — the missing enzyme in Sanfilippo syndrome type A — and normalize those of heparan sulfate. The therapy also was found…
The Sanfilippo Children’s Foundation, in Australia, has awarded AU$355,000 (about USD$267,000) for a two-year project to determine whether medicines targeting the immune system could be used to treat children with Sanfilippo syndrome. Researchers will use the grant to screen medicinal compounds for their ability to prevent cell degeneration…
Clinical trials are an essential step in treatment development, yet the many people they could potentially help are either unfamiliar with the studies or unsure about what they entail. To help remedy that, the Sanfilippo Children’s Foundation has developed fact sheets about clinical trials. The family resource…
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