News

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 pivotal VIITAL study of EB-101, Abeona Therapeutics‘ experimental therapy for recessive dystrophic epidermolysis bullosa (RDEB), now has a second clinical site on the other U.S. coast — at the UMass Memorial Medical Center in Worcester, Massachusetts — the company announced. The first clinical site, where the Phase…

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…

IgA epidermolysis bullosa acquisita (EBA) differs significantly from another skin condition known as linear IgA bullous dermatosis (LABD), and should be considered a separate disease, a German study suggests. In addition, the research highlights the importance of identifying the exact autoantigen, or targeted protein, in each condition, so that…

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…

A new and easy-to-use algorithm may help physicians diagnose epidermolysis bullosa aquisita (EBA) sooner, a process that now can take months or even years. In a recent study, researchers used artificial intelligence to analyze entire skin biopsies, of which the human eye normally can observe only a small part.

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…

Treatment with Abeona Therapeutics‘ investigational cell therapy EB-101 led to successful wound healing and eased pain in seven adults with recessive dystrophic epidermolysis bullosa (RDEB) who were followed for up to six years in a clinical trial. “The updated Phase 1/2a results showed safety and durable efficacy…

Ways to improve the quality of life for people with epidermolysis bullosa (EB) are needed, as those living with the disorder report a range of psychological and social impacts. In a series of interviews, a group of children and young adults with EB described their disease as significantly affecting…

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…

Excessive thickening of the skin on the soles of the feet (plantar keratoderma) is a common and serious complication of all subtypes of epidermolysis bullosa simplex (EBS), a study from Germany reports. This complication, appearing in early childhood, was significantly associated with pain, obesity, and limited mobility, negatively affecting employment…

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…