News

The experimental therapy ELX-02 reversed the effect of nonsense mutations in skin cells derived from people with recessive dystrophic epidermolysis bullosa (RDEB) and junctional epidermolysis bullosa (JEB), a study found. Nonsense mutations in genes result in shorter, non-functional proteins, which commonly occur in RDEB and JEB patients, and…

C-reactive protein (CRP), a standard marker for inflammation, is an indicator of the severity of recessive dystrophic epidermolysis bullosa (RDEB) but not of active skin infections, according to a recent study of inflammatory biomarkers. “Our findings identify C-reactive protein as an excellent biomarker for disease severity in RDEB…. [and]…

Treatment with Janus kinase (JAK) inhibitors — medications such as upadacitinib and baricitinib — was seen to work better than dupilumab at easing itching and skin lesions in people with epidermolysis bullosa pruriginosa (EBP) in a small real-world study. Specifically, among five patients with known itch scores receiving dupilumab,…

Treatment with dupilumab, an injection therapy approved for certain inflammatory disorders, was found to completely heal blistering in a woman in Germany with epidermolysis bullosa acquisita (EBA), a case report describes. The woman’s healing with dupilumab came after “different systemic treatments … remained ineffective,” the researchers wrote. Indeed, the patient…

Children with dystrophic epidermolysis bullosa (DEB) in the U.S. are more likely to have visits to the emergency department during summertime compared with kids who don’t have the rare disease, according to a new study. Conversely, that dynamic was found to be reversed in the autumn months, with fewer…

Scientists have devised a new, more efficient method to create gene-edited stem cell therapies for dystrophic epidermolysis bullosa (DEB). “Solving critical bottlenecks, we refine a practical and simplified … protocol for the generation of genetically corrected … skin grafts … for the long-term healing of DEB patient wounds,” the…

The first patient has been dosed in a clinical trial evaluating Aegle Therapeutics‘ AGLE-102, an investigational topical treatment for dystrophic epidermolysis bullosa (DEB). The Phase 1/2a study (NCT04173650) is assessing the safety and efficacy of the therapy, applied topically to skin lesions, against a placebo in up…

About three-quarters of people with epidermolysis bullosa acquisita (EBA) treated with rituximab experienced disease remission, according to a review study. Almost all patients responded to treatment. Overall, nearly 40% of rituximab-treated patients experienced relapses — when symptoms return after a period of improvement — over almost two…

Wounds in people with dystrophic epidermolysis bullosa (DEB) are complex and dynamic, and current categories to define such wounds do not capture the full range of their activity, according to an analysis. Researchers note that recognizing and understanding how wounds heal in people with DEB is critical to assessing…

Keratinocytes, a type of skin cell, were able to restore type VII collagen (COL7) levels and improve skin integrity when injected into the skin of a mouse model of recessive dystrophic epidermolysis bullosa (RDEB). The primary cell type found in the outermost layer of the skin (epidermis), the keratinocytes…

Along with parents of children with epidermolysis bullosa (EB), adults with the rare disease in the Netherlands urged access to a quicker diagnosis and more accurate prognosis, as well as broader public awareness and education about the condition, in a new interview-based study. “The EB community should work towards…

An altered modification of proteins involved in controlling gene activity, called histones, may contribute to how severe the buildup of excessive scar tissue is in recessive dystrophic epidermolysis bullosa (RDEB), a study suggests. Blocking abnormal histone modification with the approved medicine valproic acid reduced the signs of scarring, or…