Lindsey Shapiro, PhD,  science writer—

Long-term treatment with Filsuvez (birch triterpenes) was well tolerated and associated with sustained reductions in wound burden for people with dystrophic epidermolysis bullosa (DEB) and junctional epidermolysis bullosa (JEB). That’s according to final two-year data from the open-label phase (OLP) of the Phase 3 EASE trial…

In interviews, people with epidermolysis bullosa (EB) reported that living with these rare skin diseases has broad impacts on their psychosocial health. This burden was seen across physical, emotional, social, and functional domains, per the study, conducted in Europe. According to the researchers, the findings emphasize the importance of…

A gene-editing therapy made to correct a genetic defect in the LAMB3 gene that’s known to cause junctional epidermolysis bullosa (JEB) worked as intended and restored more normal laminin 332 protein levels in skin cells from a JEB patient. To make the treatment more precise and safer, the scientists…

Researchers have developed a framework for categorizing the severity of mutations in the COL7A1 gene that cause recessive dystrophic epidermolysis bullosa (RDEB) which could eventually be used to better inform clinical care. Patients categorized as having so-called “high-impact” mutations in a recent study were found to be at an…

Blocking the Notch signaling pathway — key to cell-to-cell communication — was found to significantly ease signs of fibrosis, or excessive scar tissue buildup, in skin cells from people with recessive dystrophic epidermolysis bullosa (RDEB) in a new study from Italy. According to the researchers, Notch signaling was elevated…

A gene-editing therapy to inactivate a harmful mutated copy of the KRT14 gene reversed defects in skin cells taken from a child with epidermolysis bullosa simplex (EBS), according to recent research. The approach restored the ability of these skin cells, called keratinocytes, to form the structural networks that help give the…

A new gene-editing strategy that does not require the use of a virus can effectively correct a COL7A1 gene mutation in skin cells derived from people with recessive dystrophic epidermolysis bullosa (RDEB), according to a recent report. Most gene therapies in development require the use of viral carriers to…

Healiva and C4U will collaborate to develop a next-generation gene editing therapy — focusing on new technology to correct gene mutations — for epidermolysis bullosa (EB) patients, who are sometimes known as butterfly children for their fragile skin. Combining C4U’s expertise in gene editing technology and Healiva’s…

The diabetes medication metformin slowed tumor growth and prolonged survival in a mouse model of aggressive squamous cell carcinoma (SCC), the most common type of cancer seen in people with recessive dystrophic epidermolysis bullosa (RDEB), in a recent study.  It did so by inhibiting cellular processes used by…

A rare case of epidermolysis bullosa acquista (EBA) was found in an older man in France with systemic sclerosis (SSc), according to a new report by researchers who noted the unusual co-occurrence of the two autoimmune diseases. “Several autoimmune or inflammatory diseases have been reported in association with…

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).

Airway involvement is a rare but burdensome and life-threatening manifestation of epidermolysis bullosa (EB) that requires prompt and proper management, according to a recent case report. Researchers in Saudi Arabia described four children with EB who were brought to their clinic showing involvement of their larynx, or voice box,…