Br J Dermatol. 2025 Dec 19;193(Supplement_3):ljaf465.004. doi: 10.1093/bjd/ljaf465.004.
ABSTRACT
Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a severe type of epidermolysis bullosa resulting from mutations in COL7A1 gene. Patients experience various degrees of blistering following minor trauma which can over time lead to fibrosis, limb contractures and an increased risk of developing squamous cell carcinoma. The aim was to assess if repeated infusions of allogeneic umbilical cord derived mesenchymal stromal cells (UC-MSCs), CORDStromTM, were safe and could benefit children with RDEB. This was a prospective, double-blinded, randomised, placebo-controlled crossover trial with an internal dose de-escalation trial (for safety) conducted at the two National Paediatric UK EB centres in RDEB children aged >6months and <16years. Participants received IV infusions of 2-3 × 106 cells/kg of UC-MSCs or placebo at day 0 and 14 days later with a 9-month wash out period between the opposite. Main outcomes were change in disease severity as measured by the Epidermolysis Bullosa Disease Activity and Scarring index (EBDASI) and the Instrument for Scoring Clinical Outcomes of Research for Epidermolysis Bullosa (ISCOREB), wound clinical appearance, pain, itch, and quality of life at 3-months from infusion. Results will be discussed at the meeting. This is the largest study worldwide in children with RDEB. Administering cell therapy early and at regular intervals has the potential to reduce inflammation, effectively modulate disease activity, and lead to clinically meaningful and sustained improvements in disease progression and quality of life. An open-label study is planned and will help us further evaluate the long-term safety and outcomes of CORDStromTM infusions in children with RDEB.
PMID:41412990 | DOI:10.1093/bjd/ljaf465.004
