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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…

The EveryLife Foundation for Rare Diseases is accepting applications for a scholarship program that aims to help adults with a rare disease pursue personal goals through training and education. For a second year, the #RAREis Scholarship Fund — supported by Horizon Therapeutics – will award 35 one-time scholarships, each…

Following the promising results of a second-generation gene therapy in a mouse model of Sanfilippo syndrome type A, a first trial in patients might be launched this year. If further work on this gene therapy continues to show potential, “there is hope to start a trial in 2021,” the …

A single dose of Abeona Therapeutics’ investigational gene therapy ABO-102 safely preserved normal cognitive development for up to three years in young children with Sanfilippo syndrome type A, according to updated data from the Phase 1/2 Transpher A trial. In addition, treatment resulted in sustained and significant reductions…

As anyone affected by a rare disease knows, treating the illness while trying to go about everyday life is an expensive undertaking.  But exactly how expensive — in terms of direct and indirect costs across rare disease populations — might still come as a surprise: almost…

The MPS Society will use a £195,000 (about $268,000) award from the National Lottery Community Fund to build connections and reduce feelings of isolation — largely caused by the COVID-19 pandemic — among members of the U.K.’s mucopolysaccharidosis (MPS) community. The grant, awarded from monies raised by the…

Editor’s Note: This story was updated on March 24, 2021, to include information about setbacks and safety concerns related to the AAVance trial. LYS-SAF302, Lysogene’s experimental gene therapy for Sanfilippo syndrome type A, effectively lowered the levels of three disease biomarkers — GM2, GM3, and heparan sulfate…