News

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…

Squamous cell carcinoma (SCC), a form of skin cancer, was the most reported cancer among people with epidermolysis bullosa (EB), with a high rate of recurrence and mortality compared with the general population, according to a review of 87 studies. Other skin cancers, including malignant melanoma and basal cell…

The U.S. Food and Drug Administration (FDA) has approved a clinical trial in healthy volunteers of ZKN-013, a treatment candidate for recessive dystrophic epidermolysis bullosa (RDEB) and junctional epidermolysis bullosa (JEB). Developed by Eloxx Pharmaceuticals, ZKN-013 is an oral therapy that can overcome nonsense mutations, a…

A never-before-reported mutation in the KRT14 gene caused epidermolysis bullosa simplex (EBS) in a family in China. The new mutation was described in the case report, “Large intragenic deletion of KRT14 causes autosomal-dominant epidermolysis bullosa simplex with generalized hyperpigmentation,” published in the Journal of Dermatological Science.

Skin-derived stem cells enhanced wound closure in people with recessive dystrophic epidermolysis bullosa (RDEB), according to clinical trial data. The treatment reduced the occurrence of new wounds, extended the time that they recurred, and wounds that did not fully close got smaller. A larger clinical trial using a control…

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…