Diogo Pinto,  —

A technique used to decipher the DNA sequence, called next-generation sequencing (NGS), was successfully used to identify two new mutations in a patient diagnosed with both simplex and junctional epidermolysis bullosa (EB). The findings were reported in the study “Next generation sequencing identifies double homozygous mutations in two…

A recent study using technology that powers NantOmics‘ comprehensive GPS Cancer test confirmed that chronic inflammation caused by the inherited childhood skin disease recessive dystrophic epidermolysis bullosa (RDEB) can lead to a rare form of skin cancer known as squamous cell carcinoma (SCC). The study, “APOBEC mutation…

Castle Creek Pharmaceuticals‘ investigational treatment CCP-020 (diacerein 1% ointment) was granted Fast Track designation by the U.S. Food and Drug Administration to treat a type of epidermolysis bullosa (EB) called EB simplex (EBS). Castle Creek is investigating CCP-020 to treat EBS patients in an ongoing Phase 2 trial…

Amryt Pharma’s investigational therapy AP101, designed to reduce the time it takes for skin wounds to close, was granted Rare Pediatric Disease designation by the U.S. Food and Drug Administration for the treatment of children with epidermolysis bullosa (EB). Rare Pediatric Disease status is granted to…

A gel made from platelets — tiny blood cells involved in blood clotting — collected from umbilical cord blood showed positive results for the topical treatment of patients with epidermolysis bullosa (EB), according to a pilot study. Results of the study, “Cord blood platelet gel for the treatment…

Two new potentially damaging mutations were identified in a family with epidermolysis bullosa pruriginosa (EBP), a rare type of epidermolysis bullosa characterized by severe itching of the skin, or pruritus, according to a case study. The mutations were found in the COL7A1 gene that gives rise to type VII…