News

Eurordis opened a campaign, called Rare 2030 Action, that is seeking to establish a European action plan for rare diseases to ensure that none of the 30 million people in Europe living with rare diseases are left behind by the start of a new decade. As part of…

Ahead of this year’s Rare Disease Week on Capitol Hill, held virtually July 14–22, the EveryLife Foundation will award grants to top advocates of rare disease organizations who participate in the week’s pre-events. The top 50 point-earners will be eligible to win $1,000 to $5,000in  grants, totaling up…

Sanfilippo carriers likely are not at an increased risk of developing adult-onset dementia or other neurodegenerative conditions, despite earlier clinical evidence suggesting such a predisposition, a new study in mice has found. After examining the brains of laboratory mice, the investigators concluded that their mouse model “does not exhibit…

Eye Movement Desensitization and Reprocessing (EMDR) can help to ease symptoms of post-traumatic stress disorder (PTSD) in parents of children with Sanfilippo syndrome, a case study suggests. The study, “Reducing posttraumatic stress in parents of patients with a rare inherited metabolic disorder using eye movement desensitization…

From “getting messy” in a workshop to participating in an art class, supporters globally are marking MPS Awareness Week, observed May 10-16. May 15 is International MPS Awareness Day. Awareness and education are vital to increasing the recognition, diagnosis, understanding, and management of mucopolysaccharidosis (MPS) disorders such as Sanfilippo…

The U.S.’ largest pilot newborn screening program for multiple disorders, including Sanfilippo syndrome type A and type B, has launched across eight hospitals in New York. The new screening test — called ScreenPlus – will expand the current newborn testing program to include 14 additional disorders not currently…

A newly funded research study will test whether an investigational therapy dubbed a “molecular tweezer” — officially called CLR01 — might ease symptoms of Sanfilippo syndrome in preclinical models. The project is co-funded by the Cure Sanfilippo Foundation, the Australian Sanfilippo Children’s Foundation, and the HANDS consortium…

More than half of the people with rare diseases and their caregivers, asked in a survey, were undecided or less than willing to be vaccinated for COVID-19 if a vaccine was approved under emergency use authorization instead of the routine process, the EveryLife Foundation for Rare Disease reports. These findings…

Treatment with ABO-102, an investigational gene therapy being developed by Abeona Therapeutics, normalized development in children with Sanfilippo syndrome type A, according to new data from a clinical trial. The data indicate that the gene therapy is especially effective when given early in life, before the disease has…

An investigational compound that targets dysfunctional or improperly working autophagy — the removal of unnecessary or damaged cell components — may improve that process and reduce inflammation in a mouse model of Sanfilippo syndrome. However, the compound did not reduce heparan sulfate accumulation or lessen behavioral…