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…
News
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 IIIAÂ (MPS IIIA). The therapy is being evaluated in children with the condition in a Phase 2/3 clinical trial called AAVance (…
In a world-first, a team of scientists in Australia has developed a model of Sanfilippo syndrome type A in zebrafish. “By adding a zebrafish model to the toolbox for Sanfilippo research, we are one step closer to finding therapies for patients,” the Sanfilippo Children’s Foundation stated in a…
Music therapy may be beneficial for children with Sanfilippo syndrome, a small study in Spain illustrates. The study, “Music therapy and Sanfilippo syndrome: an analysis of psychological and physiological variables of three case studies,” was published in the Orphanet Journal of Rare Diseases. Music therapy has been…
The National Organization for Rare Disorders (NORD) asks Americans to plan ahead to participate in the Light Up for Rare campaign to raise awareness of rare diseases. NORD is the U.S. sponsor for Rare Disease Day on Feb. 28. The annual awareness day spotlights approximately 7,000…
The Cure Sanfilippo Foundation is encouraging the U.S. Food & Drug Administration (FDA) to consider Sanfilippo syndrome as a candidate for the agency’s accelerated approval pathway. According to a recent foundation-led study, families of Sanfilippo children are willing to accept modest treatment benefits even if they come…
A $3.4 million grant from the National Institutes of Health (NIH) will fund a new natural history study — an observational study that follows a group of people over time — for patients with Sanfilippo syndrome type D. The natural history study will be led by two Yale School…
An Austin, Texas, family is putting all their effort into raising $1 million to find a treatment for their 5-year-old son, Simon Croke, who was diagnosed with Sanfilippo syndrome type B nearly three years ago. His parents, Alina and Jeremy Croke, are leveraging their son’s semi-viral popularity —…
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