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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…
Healthcare providers involved in diagnosing and treating rare diseases believe that increased physician education and collaboration with specialized facilities will have the greatest positive impact on treating these conditions over the next five years, according to results from a 2021 survey. Definitive Healthcare, a healthcare commercial intelligence company, conducted…
The 2021 Race Against Dementia post-doctoral fellowship has been awarded to scientist Karissa Barthelson, PhD, to investigate the common pathways underlying dementia in Alzheimer’s disease and Sanfilippo syndrome. The outcomes of this project may identify shared mechanisms and lead to the development of therapies for both conditions, according to…
Patient registries are a hot topic of rare disease research and many organizations are taking advantage of this resource by signing up their patient communities and connecting with researchers. Eric Sid, MD, program officer for the Office of Rare Diseases Research (ORDR), said it is difficult to estimate how…
Researchers from the Canadian Glycomics Network (GlycoNet) are developing a new combination therapy that’s showing promising preclinical results for Sanfilippo syndrome. The therapy is designed to remove patients’ faulty cells, correct them, and return them back to the body, where they will replicate to produce new healthy cells. “We…
Horizon Therapeutics has launched its #RAREis Representation program aimed at increasing diversity, equity, and inclusion among patients with rare diseases. There are about 400 million people worldwide living with a rare disease; for many of them, access to diagnosis, care, and treatments can be challenging. Accessing better care depends on…
A 30-minute, inexpensive, and easy-to-use test may help measure the activity of NDST1, one of the main enzymes involved in heparan sulfate, the sugar molecule that build ups and causes Sanfilippo syndrome, a new study shows. Supported by funds from the Cure Sanfilippo Foundation and Sanfilippo Children’s…
Bionews, the publisher of this website, hosted a virtual panel discussion on Rare Disease Day 2022, taking a deeper dive into what it’s like to live with a rare disease, including conversations about advocacy, mental health, survivor’s guilt, treatment of minority patients, and more. The Monday event, “A…
A rare disease puts an economic burden on the patients, families, and caregivers that it affects, and will no doubt be an integral part of discussions on Rare Disease Day 2022, which brings international awareness about the more than 300 million people living with rare disorders. Part of that…
A coalition of patient advocacy organizations has published a Global Roadmap for Sanfilippo Syndrome Therapies, in an effort to accelerate research and develop effective therapies and care for families affected by Sanfilippo syndrome. “The Roadmap aims to capture the historical landscape of research and clinical trials, the gaps…
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