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The Independent
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Boy, 12, with rare genetic skin disorder can now play football after breakthrough medical trial
A 12-year-old boy with a rare, painful skin condition has finally been given more freedom to play football and ride his bike thanks to a new clinical trial. Gabrielius Misurenkovas has suffered from recessive dystrophic epidermolysis bullosa (RDEB) since he was a baby. The inflammatory disease is severely debilitating, and people with it have extremely fragile skin that is easily damaged, leading to blistering, deep wounds and scarring. Only around 150 children in the UK are affected by the genetic disease, but with no treatment available, symptoms have to be managed by dressing wounds and applying eye ointments. So when Gabrielius was offered a chance to join a clinical trial at Great Ormond Street (GOSH), he jumped at the chance. 'I wanted to take part in the trial as I was excited to see if it could help improve my condition and so I could do more of the things I enjoy, like playing football and spending time with my friends,' he said. The youngster, who can speak three languages and is a big fan of footballer Lionel Messi, needed his bandages changing three times a day, or more if he was injured. But since the trial, he has managed to do a few things he was not able to before the treatment, including taking part in some sports at school, riding his bike in the park on the grass, and being able to play football with his friends with a soft ball. His mother, Jolita Cekaviciene, said: 'Gabrielius did really well on the trial. His wounds healed quicker, and his skin was less red and inflamed. 'His skin was also less itchy, which also reduced his scratching. His sleep was also less disturbed as he didn't need to have his special wound dressings changed as often, so this was a great benefit.' Ms Cekaviciene said the trial has given her son more freedom than before, but he still needs to be careful in any activity to avoid falling over or being bumped. Gabrielius was referred to GOSH as a baby after medics spotted a wound when he was born, and he was diagnosed with RDEB when he was two weeks old. Over time, the condition can lead to severe complications and many patients with the condition develop a type of skin cancer called squamous cell carcinoma when they are young adults – this is the most common cause of death for RDEB patients. Ms Cekaviciene said: 'The first two years were really hard as you had to watch him constantly – even rubbing his eyes could cause painful blistering. 'He couldn't even tell us how much pain he was in or where he was hurting.' Gabrielius is one of 30 children who took part in the new clinical trial at GOSH and Birmingham Children's Hospital, in which he received certain stem cells via an intravenous drip. In the trial, medics assessed whether regular infusions with mesenchymal stromal cells (MSC) improved symptoms for children with the condition, after studies suggested that this treatment could promote wound healing, reduce inflammation and stimulate tissue regeneration. Patients would go into hospital and have a drip which delivers the cells over 10 to 15 minutes. In the trial, funded by NHS England, the National Institute for Health and Care Research and the charity Cure EB, children were given a treatment called CORDStrom, manufactured by INmuneBio. INmuneBio has agreed to provide CORDStrom free of charge for a year for all children who took part in the trial, so researchers can continue to study them, and patients are expected to get two infusions of the treatment every four months. The company is seeking regulatory approval for the treatment so it can be approved for use in the UK and other countries.
