Margarida Maia, PhD, science writer —

Children with dystrophic epidermolysis bullosa (DEB) in the U.S. are more likely to have visits to the emergency department during summertime compared with kids who don’t have the rare disease, according to a new study. Conversely, that dynamic was found to be reversed in the autumn months, with fewer…

Along with parents of children with epidermolysis bullosa (EB), adults with the rare disease in the Netherlands urged access to a quicker diagnosis and more accurate prognosis, as well as broader public awareness and education about the condition, in a new interview-based study. “The EB community should work towards…

The costs of an average hospital stay for a child with epidermolysis bullosa (EB) can exceed $110,000 and go above $160,000 in cases of dystrophic EB, which can be very severe. according to an analysis by researchers in the U.S. The analysis was detailed in the letter “…

The U.S. Food and Drug Administration (FDA) is pushing back its timeline for a decision on Abeona Therapeutics’ pz-cel (prademagene zamikeracel), saying the agency needs more time to complete its review of the cell therapy for recessive dystrophic epidermolysis bullosa, known as RDEB. A decision by the FDA on…

An inflammatory protein called interleukin (IL)-6 is found at higher levels in people with epidermolysis bullosa who have more severe disease and larger wounds, a study found, suggesting IL-6 may be used to monitor disease progression and response to treatment. The study, “IL-6 levels dominate the serum…

A gene editing strategy corrected a disease-causing mutation in lab-grown cells derived from the skin of two individuals with recessive dystrophic epidermolysis bullosa (DEB), according to a study by researchers in the U.S. and France. “With this promising non-viral approach, we achieved therapeutically relevant specific gene editing,” the researchers…

Tofacitinib, an oral anti-inflammatory medication, eased itching and reduced skin lesions in a young man with dystrophic epidermolysis bullosa (DEB) pruriginosa caused by two newly identified mutations, according to a report from China. The report, “Novel compound heterozygous mutations of the COL7A1 gene in a Chinese patient with…

Inflammation occurring early in the course of recessive dystrophic epidermolysis bullosa (RDEB) may create conditions for the disease to progress and for cancer to grow in the skin, a mouse study suggests. Although further studies are necessary, the findings “underscore the essential role of inflammation in RDEB pathophysiology [disease]…

A young woman whose dystrophic epidermolysis bullosa (DEB) pruriginosa was caused by a newly identified gene mutation responded well to treatment with dupilumab, a medication that relieves itching, researchers in China report. Dupilumab, approved as Dupixent for several other diseases, is given as a subcutaneous or under-the-skin…

Abeona Therapeutics is seeking U.S. Food and Drug Administration (FDA) approval for EB-101, an investigational cell therapy for recessive dystrophic epidermolysis bullosa (RDEB). The biologics license application (BLA) submitted by the company was filed along with a request for priority review, which, if granted, would shorten the…

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…

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…