A single high dose of ABO-102, Abeona Therapeutics’ experimental gene therapy, prevented disease-associated brain shrinkage in three young children with Sanfilippo syndrome type A for up to two years, according to updated interim data from the Transpher A Phase 1/2 clinical trial. “Brain volume loss is characteristic in children…
More than 600 people participated in the 10th annual Rare Disease Week on Capitol Hill 2021, held virtually July 14–22, to advocate for the rare disease community. Hosted by the EveryLife Foundation’s Rare Disease Legislative Advocates (RDLA) program, the event brings together community members from across the U.S. to…
The National Organization for Rare Disorders (NORD) is applauding the Biden administration for announcing a rule to protect consumers from surprise medical billing, in a joint statement with 26 other U.S. patient organizations. The interim final rule will implement patient protections required by the No Surprises Act. Surprise…
AllianceRx Walgreens Prime, a specialty and home delivery pharmacy, is partnering with TailorMed, a healthcare technology company, to help lower out-of-pocket prescription costs for specialty pharmacy patients. Medications attained through specialty pharmacies are those used to treat rare and chronic conditions in the U.S., and are often extremely costly. For…
Two never-before-reported mutations were found in Sanfilippo syndrome type B patients, with one likely to be disease-causing, a recent study reported. How the other identified mutation relates to this disease is not yet known, its researchers said. The study, “Clinical and genetic features of 13 patients with…
Nominations are now open for the worldwide 2022 Black Pearl Awards from Eurordis-Rare Diseases Europe. The 12 award categories recognize individual advocates, policy makers, researchers, organizations, and companies who work to make a difference for the global rare disease community. The deadline for nominations is Sept. 10…
As part of its Innovative Research Grants Initiative, the National MPS Society has awarded $350,000 to support five projects into potential ways of better treating mucolipidoses (ML) or mucopolysaccharidosis (MPS) diseases, such as Sanfilippo syndrome (MPS III). These awards are were given as “cycle 1” of the grant initiative, according…
The Cure Sanfilippo Foundation is on track, with more than $1 million raised in a GoFundMe campaign, to support a potential gene therapy trial for Sanfilippo type C. This brings the total to date to about $4 million collected through three separate, ongoing campaigns helping to fund clinical studies…
At its first virtual investor event, biotech company Centogene set a bold mission: to cure 100 rare diseases within the next decade. A leader in the field of genetic diagnostics, Centogene used the June 22 event to present its strategic priorities, outlining its plans to speed the discovery…
To help patient advocacy leaders and their partners better understand how global health statistics codes — known as ICD codes — are assigned, updated, and revised in the U.S. health information system, the EveryLife Foundation for Rare Diseases is presenting a first-of-its-kind resource guide. The foundation created the…
Get regular updates to your inbox.