News

A pilot trial will investigate the effects of antimicrobial spray APR-TD011 on bacterial colonization in the wounds of people with epidermolysis bullosa (EB), the therapy’s developer, Relief Therapeutics, announced. The treatment’s active ingredient is hypochlorous acid, a chemical with strong and broad-acting antimicrobial properties. It is approved and…

Genetic defects underlying junctional epidermolysis bullosa (JEB) can also cause kidney-urinary tract symptoms, a case series reports. Researchers recommend that people with JEB and attending physicians be made aware of this risk and individualize diagnostic and therapeutic strategies to manage these complications. Multicenter studies are needed to make general…

Filsuvez (Oleogel-S10) has been approved in Great Britain — England, Scotland and Wales — for treating wounds associated with dystrophic epidermolysis bullosa (DEB) or junctional epidermolysis bullosa (JEB) in patients ages 6 months and older. In addition to granting marketing authorization, Britain’s Medical Healthcare and Products Regulatory Agency (MHRA)…

Krystal Biotech’s gene therapy gel Vyjuvek (beremagene geperpavec) for dystrophic epidermolysis bullosa (DEB) has been granted priority review by the U.S. Food and Drug Administration (FDA). Priority review status is expected to shorten the review process for applications to six months from the standard 10 months. A decision…

Squamous cell carcinoma (SCC), a type of skin cancer well known in people with recessive dystrophic epidermolysis bullosa (RDEB), also affects patients with other EB types, according to data from the Dutch EB registry. “The tumours might be discovered only when they are already large because of their indistinct…

Patients with recessive dystrophic epidermolysis bullosa (RDEB) had distinct blood metabolic profiles compared with healthy people, a study showed. The most significantly altered molecules were amino acids — the building blocks of proteins — most of which were at lower levels in RDEB patients and correlated with disease severity.

Self-reactive antibodies against the stress-induced heat shock protein 70 (Hsp70) were higher in the blood of patients with epidermolysis bullosa acquisita (EBA), a study found. In a corresponding mouse model, the researchers observed the autoantibodies contributed to a worse disease course, likely through the mediation of inflammatory pathways. “This…

A 36-year-old woman with epidermolysis bullosa acquisita or EBA — a non-genetic type of epidermolysis bullosa (EB) — was successfully treated with ustekinumab, an approved therapy for Crohn’s disease and other conditions, a case study reported. Although the patient also had Crohn’s, an inflammatory condition of the digestive tract,…

INM-755 was found to be safe in five adults with epidermolysis bullosa (EB) who were treated with the investigational cannabinol cream in a Phase 2 trial. The safety data led an independent data monitoring committee to agree that it is safe to enroll adolescents, ages 12–17, in the…

Two new mutations in the COL7A1 gene, one inherited from each parent, were identified as the cause of recessive dystrophic epidermolysis bullosa (DEB) in a 10-year-old boy, a case study reported. Further functional analyses suggested that each mutation had only mild effects — supported by the fact that his…

Nonprofits, scientists, governmental organizations, and the rare disease drug development industry have long cited 7,000 as the average number of rare diseases in the world. But a new analysis shows there are as many as 10,867 rare diseases globally. And that…

People with dystrophic epidermolysis bullosa (DEB) saw the total surface of their wounds significantly reduced after being treated with Filsuvez (Oleogel-S10) for more than a year, new data from the EASE clinical trial show. After 15 months, these patients experienced sustained reductions of 53%, on average, in wound…