Sociodemographic, health, and oral factors associated with health-related quality of life in children and adolescents with chronic kidney disease: a cross-sectional study.

Epidermolysis Bullosa (EB) is a rare genetic skin condition that causes fragile skin, blistering, and scarring and patients experience long-term physical, social and economic consequences []. A severe subtype called Recessive Dystrophic EB (RDEB) is caused by mutations in the type VII collagen gene and leads to skin blisters after minor trauma, slow wound healing and can lead to fibrosis, limb contractures, and an increased risk of developing squamous cell carcinoma where there are chronic wounds and scarring [, ]. RDEB has no cure and treatment focuses on managing the symptoms, which can be painful [] and time-consuming []; quality of life in patients with RDEB is worse than for other forms of EB []. Patients with RDEB (and EB) have severe limitations in function and social activities, a significant reduction in their quality of life [, ], in quality of life for their families and carers and can involve a high emotional and economic burden [, ]. The management of symptoms requires a multidisciplinary approach [], and in recent years there has been a global effort to find effective treatments for RDEB symptoms, with cell-based therapies identified as potential effective treatments [–]. In an uncontrolled clinical trial, ‘mesenchymal stromal cells’ (MSCs) were given to children with RDEB and showed promising results, improving wound healing, and reducing discomfort []. While bone marrow-derived MSCs were used in that trial, there is evidence that umbilical cord tissue-derived MSCs (UC-MSCs) might be even more effective []. The Mission EB trial (ISRCTN14409785) was a placebo controlled, double blinded, crossover trial looking at whether UC-MSCs (CORDStrom™, manufactured by INmune Bio) were safe and effective at treating children with RDEB []. To assess the effectiveness of UC-MSCs, participants received infusions at two timepoints, one active and one placebo. Participants were randomised ( = 37) to the order in which these were received, with patients receiving the active and placebo infusions nine months apart; 34 participants received at least one infusion. As this is a trial in a rare disease, and the sample size is small, we did not expect there to be statistically significant results. The quantitative results raised no safety concerns and although there were no changes in the primary outcome measure, the Epidermolysis Bullosa Disease Activity and Scarring Index (EBDASI), there were trends towards clinically meaningful results, with the most promising results in RDEB-intermediate patients [].