Patricia Inácio, PhD, science writer —

The first two adults with recessive dystrophic epidermolysis bullosa (RDEB) treated with the topical gene therapy candidate KB103 experienced increased levels of functional human collagen 7 (COL7) protein and anchoring collagen fibril formation, a Phase 1/2 clinical trial shows. Moreover, wounds treated with topical KB103 closed in two weeks and…

A family of enzymes with genome-editing function to enhance immune system responses are driving the high rate of skin cancer in patients with recessive dystrophic epidermolysis bullosa (RDEB), a new study shows. The study also reports that the type of mutations present in RDEB skin tumors are closer to…

FCX-007, an experimental gene therapy developed by Fibrocell Science in collaboration with Precigen (a subsidiary of Intrexon), continues to improve wound healing in recessive dystrophic epidermolysis bullosa (RDEB) patients, new results of a Phase 1/2 trial show. RDEB is caused by mutations in a gene that…

Collagen type VII-filled vesicles released by bone marrow-derived mesenchymal stem cells may explain the therapeutic benefits of these cells in recessive dystrophic epidermolysis bullosa (RDEB), a study suggests. The study, “Dual mechanism of type VII collagen transfer by bone marrow mesenchymal stem cell extracellular vesicles to recessive…

Using a simple blood sample may be sufficient to detect a biomarker for skin cancer in epidermolysis bullosa patients, a new study suggests. This is because the cancer-specific variant of the SLCO1B3 gene is found exclusively in extracellular vesicles detected in blood circulation. The study reporting the findings is titled “Extracellular Vesicles as…

Scientists have found that using inhibitors on specific parts of the so-called complement system, part of the immune system that aids the functioning of antibodies, led to improvements in blister formation in a mouse model of epidermolysis bullosa acquisita (EBA). The findings support the therapeutic potential in EBA of…

Injecting fibroblasts directly into a wound led to higher rates of healing and complete closure than other more common methods in patients with recessive dystrophic epidermolysis bullosa (RDEB), a severe form of epidermolysis bullosa, researchers found. Findings were reported in the study, “Cultured allogeneic fibroblast injection versus…

Abeona Therapeutics‘ EB-101, a gene therapy in development for patients with recessive dystrophic epidermolysis bullosa (RDEB), has received the regenerative medicine advanced therapy (RMAT) designation by the U.S. Food and Drug Administration (FDA). The RMAT designation is attributed to promising “regenerative” therapies — cell therapies, tissue engineering, or cell and…

Feeding through a tube inserted directly into the stomach, a process known as gastrostomy, is a potentially beneficial strategy for improving nutritional intake in epidermolysis bullosa (EB) patients, a review study suggests. The study, “Effectiveness of Gastrostomy for Improving Nutritional Status and Quality of Life in Patients…

A lack of vitamin D is a potential key factor in epidermolysis bullosa acquisita (EBA), researchers have found. Using mouse models of the disease, they showed that orally administrating calcitriol, vitamin D’s active form, reduced disease severity and improved inflammation by regulating the immune system’s response. The study, “…

Krystal Biotech recently announced that its leading investigational therapy for epidermolysis bullosa, KB103, has received clearance from the Recombinant DNA Advisory Committee. Krystal Biotech is a gene therapy company developing new therapeutics for dermatological diseases including epidermolysis bullosa. Its lead candidate KB103 is being studied as a potential treatment for dystrophic epidermolysis…

Short-term application of the antibiotic gentamicin, either topical or intradermal, reversed the effect of nonsense mutations in a small group of patients with recessive dystrophic epidermolysis bullosa (RDEB) and led to the production of functional type VII collagen protein and anchoring fibrils. RDEB is a severe form of epidermolysis bullosa,…