News

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…

Both bone marrow transplant and treatment with stem cells derived from bone marrow may help ease symptoms in some people with epidermolysis bullosa (EB), although a bone marrow transplant carries substantial greater safety risks. That’s according to the review study “Bone marrow transplantation and bone marrow-derived…

Additional treatments following surgery for squamous cell carcinoma (SCC), a type of skin cancer, may prolong survival in people with recessive dystrophic epidermolysis bullosa (RDEB), according to a review study. “However, it is difficult to attribute extended survival to any single treatment, as multiple therapeutic modalities are often used…

Researchers have developed a framework for categorizing the severity of mutations in the COL7A1 gene that cause recessive dystrophic epidermolysis bullosa (RDEB) which could eventually be used to better inform clinical care. Patients categorized as having so-called “high-impact” mutations in a recent study were found to be at an…

Dupilumab, an injection therapy approved for certain inflammatory disorders, may be an effective option to help ease itch and reduce blistering in people with different subtypes of epidermolysis bullosa (EB). That’s according to a study, “Dupilumab improves itch and blistering in different subtypes of epidermolysis bullosa,”…