News

Advocacy Groups Unveil ‘Roadmap’ for Sanfilippo Research, Care

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…

Q&A With RARE-X Disease Data Platform Founder, Nicole Boice

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…

Rare Disease Day Events Bring Awareness, Equity to Patients

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 Dopamine Signaling May Underlie Autistic-Like Behaviors

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…

Europe Grants Orphan Drug Status to JR-441, ERT for Sanfilippo A

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 Regains Rights to LYS-SAF302 for Sanfilippo Type A

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 (…