News

Eloxx Pharmaceuticals announced ZKN-013 as its lead oral treatment candidate for recessive dystrophic epidermolysis bullosa (RDEB) and junctional epidermolysis bullosa (JEB) caused by nonsense mutations in the COL7A1 gene. Preclinical safety and toxicology studies, required to secure U.S. Food and Drug Administration (FDA) approval for clinical trials of ZKN-013, are…

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…

Three new mutations in the COL7A1 gene and five very rare variants were identified for the first time in children with recessive dystrophic epidermolysis bullosa (DEB) in Vietnam, a study reported. These findings expand “the spectrum of COL7A1 mutations” and may have implications for the genetic counseling of patients…

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…

An open-label, Phase 1/2 clinical trial will evaluate the safety and efficacy of rigosertib in treating recessive dystrophic epidermolysis bullosa (RDEB) in people with an aggressive skin cancer called cutaneous squamous cell carcinoma (SCC). RDEB is known to bring a higher risk of developing SCC, which can be life-threatening. The…

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…