Patricia Inácio, PhD, science writer —

Note: This story was updated Dec. 11, 2023, to correct that Kyowa Kirin has entered into an agreement to acquire Orchard Therapeutics, which will be finalized next year. The story also corrected that OTL-200, Libmeldy, is under priority review by the U.S. Food and Drug Administration with a review date…

The 2021 Race Against Dementia post-doctoral fellowship has been awarded to scientist Karissa Barthelson, PhD, to investigate the common pathways underlying dementia in Alzheimer’s disease and Sanfilippo syndrome. The outcomes of this project may identify shared mechanisms and lead to the development of therapies for both conditions, according to…

A 30-minute, inexpensive, and easy-to-use test may help measure the activity of NDST1, one of the main enzymes involved in heparan sulfate, the sugar molecule that build ups and causes Sanfilippo syndrome, a new study shows. Supported by funds from the Cure Sanfilippo Foundation and Sanfilippo Children’s…

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…

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…

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…

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 …

Preliminary results from the first patient treated with Orchard Therapeutic’s OTL-201 show that the investigational gene therapy can increase the levels of sulfamidase — the missing enzyme in Sanfilippo syndrome type A — and normalize those of heparan sulfate. The therapy also was found…

Patients are continuing to be treated in clinical trials testing Abeona Therapeutics‘ investigational gene therapies — ABO-101 for those with Sanfilippo syndrome type B (MPS IIIB), and ABO-102 for Sanfilippo syndrome type A (MPS IIIA) — despite the COVID-19 pandemic, the company announced. Additional enrollment in each of these…