The EveryLife Foundation for Rare Diseases has launched a scholarship fund in the U.S. to support individuals with rare disorders who are pursuing personal goals through training and education. The initial phase of the five-year, $1-million #RAREis Scholarship Fund will include 32 scholarships — each totaling $5,000 —…
News
Seelos Therapeutics announced it has received a positive opinion on an orphan drug designation for SLS-005 (trehalose) — its investigational therapy for Sanfilippo syndrome — from the Committee for Orphan Medicinal Products (COMP), a part of the European Medicines Agency (EMA). Following this opinion from…
When the COVID-19 pandemic forced the postponement of a rare disease film festival originally slated for May, its organizers set out to find a new way to bring the films to an audience. Co-founders Daniel DeFabio and Bo Bigelow, who are both fathers of children with…
Treatment with blood stem cells genetically engineered to block interleukin-1 beta (IL-1b) signaling may be a promising approach for reducing brain inflammation and cognitive decline in Sanfilippo syndrome type A, a study in mice reports. The study, “Haematopoietic stem cell gene therapy with IL…
The University of Washington and the National MPS Society are seeking  participants for a study to predict the type and severity of MPS (mucopolysaccharidosis) disorders, such as Sanfilippo syndrome (MPS III). Results of the study will be used to improve newborn screening efforts. Participants with MPS II (Hunter syndrome),…
The Committee for Orphan Medicinal Products, a branch of the European Medicines Agency (EMA), favors designating SLS-005 (trehalose) an orphan drug as a potential treatment for Sanfilippo syndrome, Seelos Therapeutics, its developer, announced. The positive opinion will now be sent to the European Commission, which…
Patients are continuing to be treated in clinical trials testing Abeona Therapeutics‘ investigational gene therapies — ABO-101 for those with Sanfilippo syndrome type B (MPS IIIB), and ABO-102 for Sanfilippo syndrome type A (MPS IIIA) — despite the COVID-19 pandemic, the company announced. Additional enrollment in each of these…
The EveryLife Foundation for Rare Diseases has launched a nationwide National Burden of Rare Disease Survey to measure the full implications, economic and social, of living with rare disease in the United States. People with rare diseases know that the impacts of such conditions extend beyond just medical…
Parents and relatives of those with Sanfilippo syndrome have a more positive perception of expanded carrier screening (ECS) for pregnancies than the general population, and are more likely to make use of it, according to a survey in the Netherlands. Preconception expanded carrier screening is a comprehensive genetic test…
An abnormal accumulation of heparan sulfates — a hallmark of Sanfilippo syndrome type A — in the retina causes cell death and induces eye symptoms by impairing a process called autophagy, which cells use to clear out unwanted components, a study of mice has found. Notably, eye symptoms developed…
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