Iqra Mumal, MSc,  —

Scientists have discovered a new mutation in the COL7A1 gene — which provides instructions for making a type of collagen protein — in a Chinese family with pretibial dystrophic epidermolysis bullosa (DEB), a study revealed. The study, “A novel mutation of COL7A1 in a Chinese DEB‐Pt family…

Topical treatment with B-VEC, formerly known as KB103, is safe and leads to complete and durable wound healing in people with recessive dystrophic epidermolysis bullosa (RDEB), final results from a small Phase 1/2 trial suggest. RDEB is caused by mutations in the COL7A1 gene. This leads to…

An experimental cell therapy where a patient’s own skin cells (fibroblasts) are engineered in the lab to carry a healthy COL7A1 gene and then injected back into the patient is safe and potentially efficacious for treatment of recessive dystrophic epidermolysis bullosa (RDEB), a new study shows. The study, “…

RegeneRx Biopharmaceuticals announced a clinical trial update on RGN-137, an investigational therapy for the treatment of epidermolysis bullosa (EB). The update was provided by GtreeBNT, RegeneRx’s partner for the development of RGN-137 in the United States. RGN-137 is a thymosin βeta-4 (Tβ4)-based dermal gel that being developed…

Fibrocell Science has completed a type C meeting with the U.S. Food and Drug Administration in which they discussed the design of a Phase 3 clinical trial to assess the efficacy of FCX-007, a gene therapy candidate for the treatment of recessive dystrophic epidermolysis bullosa (RDEB). During the…

New York-based EB Research Partnership (EBRP), along with the EB Research Foundation in Australia, announced a global collaboration that aims to develop lifesaving treatments for patients with epidermolysis bullosa (EB). Under the rules of the partnership, the EB Research Foundation will help fund the EBRP’s independent Scientific Advisory Board (SAB).

Allogeneic fibroblast injections are an effective and safe treatment strategy for non-healing wounds in patients with recessive dystrophic epidermolysis bullosa (RDEB), new research from Russia shows. The study, “Allogeneic fibroblast cell therapy in the treatment of recessive dystrophic epidermolysis bullosa,” was published in the journal…

Epidermolysis bullosa (EB) can affect the gastrointestinal tract, leading to the development of esophageal stenosis, or a narrowing of the esophagus, according to a new case report. The report, “A rare case of skin blistering and esophageal stenosis in the course of epidermolysis bullosa – case report…

Patients with epidermolysis bullosa acquisita sometimes can develop acute renal failure, according to a case report. The report, “Acute renal failure in a patient with epidermolysis bullosa acquisita,” was published in the journal Anais Brasileiros de Dermatologia. Epidermolysis bullosa acquisita (EBA) is a severe autoimmune skin…

A protein called SYK is a major regulator of the inflammatory response carried out by myeloid cells in mouse models of epidermolysis bullosa acquisita (EBA), showing potential for a new therapeutic target, researchers discovered. Findings were published in the study, “Whole-Genome Expression Profiling in Skin Reveals…

Japanese physicians have reported a newly discovered mutation in the COL7A1 gene, called c.6885_6898del14, which resulted in the development of recessive dystrophic epidermolysis bullosa (RDEB) in a child. The results were published in a study titled, “A case of recessive dystrophic epidermolysis bullosa with a novel c.6885_6898del14…

A case report demonstrates that a novel mutation discovered in the junctional plakoglobin (JUP) gene can lead to lethal congenital epidermolysis bullosa (EB). The report, titled “A Novel Mutation in Junctional Plakoglobin Causing Lethal Congenital Epidermolysis Bullosa,” was published in The Journal of Pediatrics. The normal…