There are around 150 children in the UK living with the severe genetic skin condition, recessive dystrophic epidermolysis bullosa (RDEB). Currently, there is no effective treatment available. The current standard of care focuses on managing the symptoms of the condition.
The study team, led by Chief Investigator, Dr Anna Martinez (GOSH), found that regular stem cell infusions, CORDStrom, improved symptoms for RDEB, and hope this trial will pave the way towards this treatment becoming routine clinical care.
RDEB is caused by a fault in a gene that makes collagen VII, a protein that holds the layers of skin together. Children with the condition have skin that is damaged by even the smallest amount of friction, which causes severe blistering, deep wounds, and scarring. This creates an overwhelming inflammatory disorder that affects the function of most organs in the body, often, with the onset of squamous cell carcinoma in the early adult years, a type of skin cancer which is the most frequent cause of death in RDEB patients.
Read the BBC News coverage of the study findings and a trial participant, Gabrielus Misurenkovas’ (12), story.
Read more about the MissionEB trial.