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…
Family members of people with atypical hemolytic uremic syndrome (aHUS) who carry mutations in complement genes may be at a lower risk of developing this disease than previously reported, according to an Italian study. The single-center study estimated the risk to be at 20% — much lower than the 50%…
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…
On the outside, Khloe Sudol seems like a normal 11-year-old. The quiet, reserved girl is full of energy, filling her time with horseback riding, swimming, and school work. But on the inside, her kidneys have failed as a result of the ultra-rare disease atypical hemolytic uremic syndrome (aHUS), which…
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 Phase 3 clinical trials will evaluate the safety and effectiveness of Roche’s investigational, self-injectable therapy crovalimab (RG6107) in children, adolescents, and adults with atypical hemolytic uremic syndrome (aHUS). The first trial, called COMMUTE-a (NCT04861259), already is recruiting aHUS patients, ages 12 and older, at sites in the…
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…
A newly identified mutation in the C3 gene that causes severe, life-threatening atypical hemolytic uremic syndrome (aHUS) was found in a baby boy in Israel, scientists report. While C3 mutations leading to overactivation of complement protein C3 are associated with aHUS, they are usually found in only one of…
Soliris (eculizumab) may help to control microangiopathy — a disease affecting small vessels — and restore kidney function in newborns with atypical hemolytic uremic syndrome (aHUS), according to a recent case report. The report, “Neonatal atypical hemolytic uremic syndrome in the eculizumab era,” was published…
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…
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