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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…

Genetic metabolic diseases, such as Sanfilippo syndrome, may underlie an autism spectrum disorder (ASD) diagnosis, especially when accompanied with additional symptoms, according to a case series in Turkey. The data suggested that 3.3% of ASD cases may have a metabolism-related genetic cause, which in many cases can be attenuated or…

Many diseases have their own awareness color — breast cancer is pink, muscular dystrophy is green, and AIDS is red, for example — but what’s the significance of pink, green, blue, and purple lights side-by-side? These are the colors most often used to represent Rare Disease Day. This…

Impassioned videos, including a new one about a 12-year-old who has Sanfilippo syndrome and his parents’ battle to save him, have raised more than $400,000 toward an unprecedented clinical study that could give the boy a chance at survival. The hope is that the videos will attract $3 million for…

Diagnosed with sickle cell disease as a 6-month-old, Tristan Lee has faced a lot of challenges over his 37 years of life. But from a young age, he also learned how to turn those trials into triumphs. At age 9, a stroke due to his disease left him paralyzed…

Sanfilippo syndrome’s characteristic buildup — to toxic levels — of the complex sugar molecule heparan sulfate appears to affect the production of aldosterone, a hormone that controls blood pressure, leading to serious complications, researchers report. They detail what is likely the first known case of…