News

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…

An ongoing clinical trial is investigating an approved anti-inflammatory compound anakinra, sold under the brand name Kineret, as a potential treatment for Sanfilippo syndrome. The Phase 2/3 pilot trial (NCT04018755) opened in May in the U.S. and has enrolled 20 children, ages 4 and older, all of whom will be…

The Alexion Charitable Foundation has awarded $1.1 million in grants to programs that support those with rare diseases during the COVID-19 pandemic, the organization recently announced. The grants will support activities that align with the foundation’s Rare Belonging focus, a set of funding priorities aimed at improving the…

Karen Aiach never imagined she’d one day start a drug company dedicated to curing a fatal genetic disease. But that was before 2005, when the French business consultant gave birth to a baby girl with Sanfilippo syndrome type A, also known as mucopolysaccharidosis type IIIA. Aiach, 48, is the…

The U.S. Food and Drug Administration (FDA) has issued a hold on Lysogene‘s trial of its gene therapy candidate LYS-SAF302 for Sanfilippo syndrome type A. LYS-SAF302 is a one-time treatment meant to deliver a healthy copy of the SGSH gene, which is defective in Sanfilippo…

The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis for a disease that few people — sometimes even physicians — have heard of is challenging on its own merit. But…