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…
Krystal Biotech is seeking U.S. Food and Drug Administration (FDA) approval of Vyjuvek (previously called B-VEC), its topical gene therapy for people with dystrophic epidermolysis bullosa (DEB). The request was made in the form of a biologics license application or BLA — a type of marketing approval —…
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.
The National Organization for Rare Disorders’ (NORD) “Living Rare, Living Stronger Patient and Family Forum” is back in person on June 26 for a day of learning and networking in Cleveland, Ohio. The event, which brings together the rare disease community, will take place at the InterContinental Cleveland Conference…
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…
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…
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