A boy with a rare, painful skin condition has been given hope after taking part in a trial for the first potential treatment for the disorder.
Gabrielius Misurenkovas’ mother says he has managed to do a few things that 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.
The 12-year-old was diagnosed with an inflammatory disease called recessive dystrophic epidermolysis bullosa (RDEB) when he was a baby.
People with the painful genetic disease, which is severely debilitating and causes itchiness, have extremely fragile skin which can be damaged with even the smallest amount of friction, leading to blistering, deep wounds and scarring.
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.
About 150 children in the UK are affected by RDEB.
The condition is caused by a fault in the gene that makes a protein which holds layers of skin together – collagen VII.
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Gabrielius, who has been under the care of medics at the world-renowned children’s hospital Great Ormond Street (GOSH) since he was a baby, said he jumped at the chance to join the clinical trial when it was suggested by his doctors.
He continued: “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.”
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.
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 added that 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 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.”
How did the trial work?
Medics wanted to assess whether regular infusions with mesenchymal stromal cells (MSC) improved symptoms for children with the condition, after studies suggested that MSC treatments could promote wound healing, reduce inflammation and stimulate tissue regeneration.
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.
Gabrielius is one of 30 children who took part in the new clinical trial at GOSH and Birmingham Children’s Hospital.
Patients would go into hospital and have a drip which delivers the cells over 10 to 15 minutes.
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In the study, patients were split into two groups, about half were given the treatment, which is made from umbilical cord tissue, as an infusion, twice over two weeks.
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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 largest effects were in children under the age of 10, and in the children with intermediate type of RDEB.
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 company is seeking regulatory approval for the treatment so it can be approved for use in the UK and other countries.
