News

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…

The nonprofit RARE-X is creating an easily-accessible, centralized data hub for all rare disease patient data that can help researchers answer questions about existing disorders, discover new ones, and work toward finding treatments. It was spun out of the work that Nicole Boice, founder and chief engagement officer of…

It’s been nearly a year since the EveryLife Foundation for Rare Diseases released its expansive report finding the total economic burden of rare disorders in the U.S. to be nearly $1 trillion.

The Cure Sanfilippo Foundation continues to support an expanded newborn screening program that includes testing for Sanfilippo syndrome, now by signing on to a letter that the EveryLife Foundation is submitting to legislators in the U.S. states of Maryland and Mississippi. EveryLife‘s letter was written to thank…

Nerve cells in brain tissue from a Sanfilippo syndrome type C mouse model — in early stages of the disease — found structural abnormalities and deficits in nerve cell signaling. These impairments, the study’s scientists said, might underlie the early learning and behavior symptoms seen in Sanfilippo patients. The study, “…

Since 2008, Rare Disease Day — the last day of February — has brought together patients, caregivers, family members, friends, and advocates from around the world to raise awareness and improve equity for the more than 7,000 known rare diseases that affect more than 300 million people. In 2022, the…

Altered heparan sulfate metabolism, the underlying cause of Sanfilippo syndrome, leads to dopamine-dependent and autistic-like behaviors in mouse models, a study reported. Treatment with compounds that blocked dopamine-related pathways rescued hyperactive behaviors and social deficits in these mice, suggesting that dopamine-related therapies may ease the severe autistic-like behaviors seen…

The European Commission has granted an orphan drug designation to JR-441, JCR Pharmaceuticals’ brain-penetrating experimental enzyme replacement therapy (ERT) for Sanfilippo syndrome type A, the company has announced. The designation is given to investigative therapies with the potential to be safe and effective for rare, life-threatening, or…

Lysogene is terminating its licensing agreement with Sarepta Therapeutics for LYS-SAF302, its investigational gene therapy for Sanfilippo syndrome type A, also known as mucopolysaccharidosis type IIIA (MPS IIIA). The therapy is being evaluated in children with the condition in a Phase 2/3 clinical trial called AAVance (…