Trial gives hope to children suffering from painful skin condition

Gabrielius Misurenkovas was diagnosed with recessive dystrophic epidermolysis bullosa (RDEB) when he was a baby

A boy with a rare and painful skin condition has been given hope after taking part in a trial for a potential treatment for the genetic disorder.

Gabrielius Misurenkovas, 12, from east London, was diagnosed with the inflammatory disease recessive dystrophic epidermolysis bullosa (RDEB) when he was a baby.

The rare genetic disease is severely debilitating and even the smallest amount of friction can cause damage and lead to blistering, deep wounds and scarring.

During the trial, Gabrielius received certain stem cells via an intravenous drip to help alleviate the painful condition.

About 150 children in the UK are affected by RDEB

About 150 children in the UK are affected by RDEB.

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

Over time, the condition can lead to severe complications and patients can 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, according to experts.

Gabrielius has been under the care of medics at 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.

Previously 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.

Gabrielius said he jumped at the opportunity to take part in the trial

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 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 said Gabrielius had managed to do a few things that he was not able to before having 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, using a soft ball.

Ms Cekaviciene said the trial had given her son more freedom than before, but he still needed to be careful in any activity to avoid falling over or bumps.

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.

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

RDEB is a genetic condition caused by a fault in the gene that makes a protein which holds layers of skin together - collagen VII.

Medics wanted to assess whether regular infusions with mesenchymal stromal cells (MSC) improved symptoms for children with the condition, after studies suggested that such treatments could promote wound healing, reduce inflammation and stimulate tissue regeneration.

Gabrielius is one of 30 children who took part in the new clinical trial at GOSH and Birmingham Children's Hospital, which was funded by NHS England, the National Institute for Health and Care Research and the charity Cure EB.

During it patients would go into hospital and have a drip which delivered the cells as an infusion over 10 to 15 minutes.

The 12-year-old is a big fan of footballer Lionel Messi

The study, published in the journal eClinicalMedicine, reported a positive outcome of the treatment.

The largest effects were in children under the age of 10, and in the children with an intermediate type of RDEB.

Families involved in the study reported a positive impact on daily life and well-being, with a reduction in both pain and itching.

The treatment was said to have been well tolerated by the children.

INmuneBio, the firm behind the treatment, has agreed to provide it 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.