Margarida Maia, PhD,  science writer—

A young boy in Spain was evaluated for developmental delay and found to have three different genetic diseases: junctional epidermolysis bullosa (JEB), Angelman syndrome, and autosomal recessive deafness type 57. While having more than one genetic disease is not uncommon, researchers estimated that having both JEB and Angelman…

Researchers in the U.K. used a gene editing tool to fix a common mutation causing recessive dystrophic epidermolysis bullosa (RDEB), enabling cells from a patient to restore production of type VII collagen (C7), a protein they lacked. With enough C7, the fixed cells were also able to rebuild the…

New study findings point to neutrophils, a type of immune cells, as possible players in epidermolysis bullosa acquisita (EBA) — and to an enzyme in them as a potential therapeutic target for the autoimmune disease. Taking away that enzyme, called spleen tyrosine kinase or SYK, from neutrophils stopped EBA…

The level of soluble transferrin receptor (sTfR) in blood may help diagnose more children with anemia, a condition caused by having too few red blood cells that’s common in recessive dystrophic epidermolysis bullosa (RDEB), a study suggests. The study, “Iron status and burden of anemia in children with…

Disease activity may remain stable over years in people with epidermolysis bullosa, but will increase in the absence of treatment, according to a new report from a team of researchers in Australia. The team used the Epidermolysis Bullosa Disease Activity and Scarring Index, known as EBDASI — a…

An adenine base editor (ABE), a kind of molecular tool, was used to fix a disease-causing mutation in lab-grown fibroblasts from a person with dystrophic epidermolysis bullosa (DEB). The fix restored production of type VII collagen (C7), the protein missing in the disease, a study found. If the findings…

Getting gene editing based on CRISPR, a kind of molecular scissors, delivered directly into cells may help restore the production of type VII collagen, the protein that’s missing in patients with dystrophic epidermolysis bullosa (DEB), a mouse study found. If the findings hold in humans, they “would allow the…

Many patients with dystrophic epidermolysis bullosa (DEB) need the help of a caregiver at home, and this adds up to their direct costs, which are higher than the mean costs of all patients with epidermolysis bullosa, according to a study covering five countries in Europe.  On average,…

Three small children with junctional epidermolysis bullosa (JEB) developed extensive damage to the airways and lungs, which led to breathing problems that proved fatal, according to a U.S. report. The report, “Junctional epidermolysis bullosa with extensive lung involvement in three patients with a LAMB3 mutation,” was published in…

Omalizumab — an antibody against immunoglobulin E (IgE) — may be effective and safe for wound healing in patients with recessive dystrophic epidermolysis bullosa (RDEB) and high IgE levels, a small study suggests. The treatment was also safe and well-tolerated, suggesting it may provide a therapeutic alternative for a disease…

Topline data should be available toward the end of this year for a Phase 3 clinical trial testing B-VEC (beremagene geperpavec), a topical gene therapy for treating skin wounds in patients with dystrophic epidermolysis bullosa (DEB). Krystal Biotech, the therapy’s developer, announced that the last of the 31 participants in…

The U.S. Food and Drug Administration (FDA) has awarded Castle Creek Biosciences a research grant to support its Phase 3 clinical trial of FCX-007 (dabocemagene autoficel), an investigational gene therapy for treating wounds in patients with recessive dystrophic epidermolysis bullosa (RDEB). The grant of $1.82 million, which comes from…