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…
To empower and equip members of the rare disease community to engage state leaders in matters of importance to patients and their families, the National Organization for Rare Disorders (NORD) has launched an initiative across the U.S. Its goal is to establish a Rare Disease Advisory Council (RDAC)…
The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a survey conducted by Eurordis-Rare Diseases Europe. “People living with rare diseases in Europe have found themselves caught as collateral…
Leaders in the U.S. rare disease community came together recently for a webinar to present helpful information on how to start a nonprofit and patient registry. They shared about how their respective organizations came to be, as well as the benefits of creating patient registries and how they can help…
Taysha Gene Therapies and Invitae have announced a partnership to support Invitae’s Detect Lysosomal Storage Diseases (Detect LSDs) and Behind the Seizure programs by offering free genetic testing to patients. The Detect LSDs program aims to enable the rapid diagnosis of lysosomal storage diseases such as…
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