News

Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…

The Cure Sanfilippo Foundation will be among those presenting posters at the WORLDSymposium 2021 conference on lysosomal storage disorders such as Sanfilippo syndrome, held virtually Feb. 8–12. “This is the conference where most of the scientists and researchers in the field of lysosomal storage diseases come together to…

While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs for prescription medicines and access to affordable comprehensive care — still need attention. Those were the findings of the…

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…

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…