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Properties of a lubricant of the small air sacs (alveoli) that is essential for normal lung function appear to be altered in Sanfilippo syndrome type A, a study in mice reported. Changes in the mechanism and activity of this lung lubricant, known as pulmonary surfactant, “may explain the increased susceptibility of…
The National Alliance for Caregiving, in partnership with Global Genes, has issued a free guidebook, available online, that offers resources and support for caregivers of children with rare diseases. “The Circle of Care Guidebook for Caregivers of Children With Rare and/or Serious Illnesses” was designed…
Registration is now open for Global Genes‘ 2021 RARE Patient Advocacy Summit. This year’s hybrid event will be livestreamed from California Sept. 27-29, and some seats also are available for attending the event in person in San Diego. “Here you’ll have the opportunity to connect and engage with others…
M041, an enzyme replacement therapy M6P Therapeutics (M6PT) is developing for Sanfilippo syndrome type B, can effectively be transported into cells, proof-of-concept preclinical data show. With data showing such “increased efficiency … M041 is a potential novel recombinant enzyme therapy for Sanfilippo B syndrome,” M6PT said in a…
Registration is now open for the 2021 Rare Diseases and Orphan Products Breakthrough Summit, which will be held virtually Oct. 18–19. The event, also known as the National Organization for Rare Disorders (NORD) Summit, brings the rare disease community together to network and discuss developments in treatments and research…
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…
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