News

Two New COL7A1 Mutations Identified in Boy With DEB

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…

Filsuvez Significantly Reduces Wounds After 15 Months in Trial

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…

Filsuvez Gel Becomes 1st Therapy Approved in EU for EB Wounds

The European Commission has approved Amryt Pharma’s Filsuvez (Oleogel-S10) for the treatment of skin wounds in adults and children, ages 6 months and older, with dystrophic epidermolysis bullosa (DEB) or junctional epidermolysis bullosa (JEB). The decision makes Filsuvez, a topical gel, the first-ever therapy approved for EB wounds.

Complex Surgical Management of Skin Tumors Noted in Study

Skin tumors called cutaneous squamous cell carcinomas (cSCCs) are common in people with certain types of epidermolysis bullosa (EB), and their surgical management is often complex, a study highlights. Its researchers noted that regular monitoring to enable early diagnosis is key to proper management of these tumors. “Our…

PTR-01 Promotes Wound Healing, Eases Pain in Phase 2 RDEB Trial

Treatment with the experimental protein replacement therapy PTR-01 promoted wound healing and decreased pain in people with recessive dystrophic epidermolysis bullosa (RDEB), new results from a Phase 2 clinical trial show. The findings were presented by BridgeBio Pharma and its affiliate, Phoenix Tissue Repair, the therapy’s developer, at…

Three Cases of Severe Lung Involvement in Children With JEB

Three small children with junctional epidermolysis bullosa (JEB) developed extensive damage to the airways and lungs, which led to breathing problems that proved fatal, according to a U.S. report. The report, “Junctional epidermolysis bullosa with extensive lung involvement in three patients with a LAMB3 mutation,” was published in…