Researchers used a small molecule called M3814 for more accurate editing of genetic mutations causing recessive dystrophic epidermolysis bullosa (RDEB), according to a new study. This method enabled skin cells from three patients to restore their production of type VII collagen (C7) protein, which they lacked, the researchers noted.
A committee of the European Medicines Agency is recommending approving Vyjuvek (beremagene geperpavec), a gene therapy from Krystal Biotech, to treat wounds in patients of all ages with dystrophic epidermolysis bullosa (DEB). The opinion by the Committee for Medicinal Products for Human Use (CHMP) will now go to…
RLF-TD011, a spray of hypochlorous acid that Relief Therapeutics is developing to control infections in wounds of epidermolysis bullosa patients, was effective at fighting off harmful bacteria in adults and children with the junctional or dystrophic form of the disease. That’s according to findings from an investigator-initiated…
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…
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