Boy, 12, whose skin tears at the slightest touch given hope after groundbreaking trial

A 12 year old boy from East London, suffering from a rare skin condition that causes damage even with the slightest friction, has been given a glimmer of hope after participating in a trial for the first potential treatment for his genetic disorder.

Gabrielius Misurenkovas was diagnosed with an inflammatory disease known as recessive dystrophic epidermolysis bullosa (RDEB) when he was just a baby. Thanks to a groundbreaking trial where he received specific stem cells via an intravenous drip, many symptoms of this painful condition have been eased.

This rare genetic disease is severely debilitating, causing extremely fragile skin which is easily damaged, leading to blistering, deep wounds and scarring. Around 150 children in the UK are affected by RDEB, which is not only painful but also causes severe itchiness.

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With no disease-modifying treatment available, patients and their families manage symptoms by dressing wounds and applying eye ointments. 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.

Gabrielius has been under the care of medics at the world-renowned children's hospital Great Ormond Street (GOSH) since he was a baby. He said he jumped at the chance to join the clinical trial when it was suggested by his doctors.

"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 multilingual youngster, who is a massive fan of Lionel Messi, had to have his bandages changed three times a day, or even more if he got hurt. His mum, 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 him 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."

She revealed that Gabrielius has managed to do a few things that he was not able to before the treatment, including participating in some school sports, riding his bike in the park on the grass, and being able to play football with his mates, with a soft ball.

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 bumps.

Gabrielius was referred to GOSH as a baby after doctors noticed a wound when he was born, and he was diagnosed with RDEB when he was two weeks old. 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."

RDEB is a genetic condition caused by a fault in the gene that produces collagen VII, a protein that binds skin layers together.

Doctors wanted to see if regular infusions with mesenchymal stromal cells (MSC) could improve symptoms for children with the condition, following studies suggesting that MSC treatments could promote wound healing, reduce inflammation and stimulate tissue regeneration.

The trial, funded by NHS England, the National Institute for Health and Care Research and the charity Cure EB, involved a treatment called CORDStrom, produced by INmuneBio.

Gabrielius was one of 30 children who participated in the new clinical trial at GOSH and Birmingham Children's Hospital. Patients would go into hospital and receive a drip which delivers the cells over a span of 10 to 15 minutes.

In the study, patients were divided into two groups, with about half receiving the treatment, made from umbilical cord tissue, as an infusion, twice over two weeks. The other half were given a placebo, also known as a dummy drug.

They then had a nine-month gap, known as a wash-out period, where the group that were initially given the dummy drug were given the treatment, while the group that received therapy first were given a dummy drug.

The study, published in the journal eClinicalMedicine, reported a positive outcome of the treatment. The most significant improvements were seen in youngsters under 10 years old, and in children with the intermediate form of RDEB.

Families taking part in the research reported beneficial effects on everyday life and wellbeing, with decreased pain and itching. The therapy was described as being well tolerated by the youngsters.

INmuneBio have 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 firm is seeking regulatory approval for the therapy so it can be licensed for use in the UK and other nations.

Lead investigator of the research, Dr Anna Martinez, paediatric dermatologist at GOSH, said: "Our study has demonstrated that CORDStrom was safe and can help reduce disease activity in some patients with RDEB.

"Administering the treatment early and at regular intervals appears to reduce itch and improve wound healing, which over time we hope will reduce inflammation, modify the condition and may reduce over time the future risk of squamous cell carcinoma.

"It's fantastic to see how the patients, like Gabrielius, had improvements in their symptoms and their quality of life."

She further stated: "The 12-month open label study will allow us to collect more data to hopefully show an increased benefit from treatments administered in children and young people with RDEB, to continue research in support of the treatment being rolled out more widely."

Sharmila Collins, founder trustee of Cure EB, expressed: "Since funding the first trial and by contributing to Mission EB we have been working towards bringing MSC infusions forward for all children in the UK with RDEB. We hope these cells will become part of routine clinical care to alleviate the significant suffering of children with this condition."