News

A new mutation in the ITGA6 gene, called “a novel lethal variant” by researchers, was identified as the cause of junctional epidermolysis bullosa (JEB) that led to the death of a fetus at 32 weeks of pregnancy, according to a case reported in Saudi Arabia. This was the third…

Lesions in the skin and mucosa in a 20-year-old woman with epidermolysis bullosa acquisita (EBA) came back years later, after a COVID-19 vaccination, according to a case report. While rapid development of skin disease after receiving vaccinations had been reported, this is the first case of possible EBA with autoantibodies…

LifeArc and DEBRA Austria have launched a £2.5 million (around $3.3 million) funding call for projects that seek to repurpose therapies for epidermolysis bullosa (EB). Treatment repurposing consists of identifying new therapeutic use for approved medicines. It is an alternative approach to the traditional process of developing…

People with recessive dystrophic epidermolysis bullosa (RDEB) developed fewer new wounds after getting treatment with skin-derived mesenchymal stem cells, a new clinical trial analysis shows. The treatment also led to newly developed wounds healing more quickly, and healed wounds more frequently remained closed. The study, “Kinetics of…

Gene therapy applied to stem cells — ones derived from blister fluid collected from people with recessive dystrophic epidermolysis bullosa (RDEB) — successfully generated C7 protein within the skin layers of RDEB model mice. Production of C7, which is lacking in RDEB, worked best when modified cells were applied…

New study findings show how the complement system C5aR2 protein at the surface of neutrophils, a type of immune cell, may contribute to the progression of the rare autoimmune disease epidermolysis bullosa acquisita (EBA). Mice lacking C5aR2 specifically at the surface of neutrophils had lessened inflammation. “Signaling through C5a receptors induces…

Abeona Therapeutics has been working with the U.S. Food and Drug Administration (FDA) ahead of its planned submission of a biologics license application (BLA) for EB-101, with an aim of maximizing the chances of having its cell therapy approved as a treatment for recessive dystrophic epidermolysis bullosa (RDEB).

Colitis, an inflammation of the large intestine (colon), may develop in rare cases in people with recessive dystrophic epidermolysis bullosa (RDEB), according to a study of one such case. The patient was successfully treated with mesalamine and the steroid budesonide, but more research is needed to “develop evidence-based guidelines…

Issues with wound healing may play a central role in driving severe forms of epidermolysis bullosa (EB), a new paper proposes. Scientists think that, in EB, wounds may enter a vicious cycle where they become inflamed as they try to heal, but then are unable to resolve the healing…

The just-approved gene therapy Vyjuvek (beremagene geperpavec) soon will be available to people with dystrophic epidermolysis bullosa (DEB) in the U.S. at home and in the clinic. Krystal Biotech, the treatment’s developer, has set up a limited distribution network in the country that includes Option Care Health…

The U.S. Food and Drug Administration (FDA) has approved Vyjuvek (beremagene geperpavec), Krystal Biotech’s gene therapy gel, for treating skin wounds in patients 6 months and older with dystrophic epidermolysis bullosa (DEB). Vyjuvek becomes the first re-dosable gene therapy approved by the FDA, and the only medicine approved…

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…