Brain-in-a-Dish, a research project that aims to develop patient-derived cell models to study Sanfilippo syndrome and identify potential treatments, is now moving to a therapy screening phase. This research update came from Australia’s Sanfilippo Children’s Foundation, which together with the goverment’s Medical Research Future Fund granted a total…
The European Commission is expected to propose a new governing framework for health data next month, called the European Health Data Space (EHDS), with the aim of connecting national health systems to facilitate secure and efficient transfer of data across systems in different European nations. The move is expected to…
The National Organization for Rare Disorders (NORD) has updated its State Report Card to make it more digitally friendly and added telehealth to its categories of rare disease policy issues in a nod to its increased use during the ongoing COVID-19 pandemic. NORD’s report card project began seven…
A film crew visited Alina and Jeremy Croke’s Texas home last spring to make a video about their young son, Simon, in hopes of raising $1 million to help find a treatment for Sanfilippo syndrome type B. That video, his parents hoped, might help to save 5-year-old Simon’s life.
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…
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