News

ELX-02 reverses impact of nonsense mutations in RDEB, JEB cells

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…

JAK inhibitors seen to work better than dupilumab for EBP itching

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,…

Dupilumab seen to heal blisters in epidermolysis bullosa acquisita

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…

New platform allows gene-edited stem cell therapies for DEB

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…

Rituximab treatment may be safe, effective for EBA: Review study

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…

Proteins involved in activating genes may contribute to RDEB fibrosis

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…