Boy with fragile skin disorder given hope after new treatment

Yahoo

2 days ago

A boy with a rare skin condition which can cause damage with even the smallest amount of friction has been given hope after taking part in a trial for the first potential treatment for the genetic disorder.
Gabrielius Misurenkovas, 12, from east London, was diagnosed with an inflammatory disease called recessive dystrophic epidermolysis bullosa (RDEB) when he was a baby.
Many symptoms of the painful condition have been alleviated thanks to a new trial in which he received certain stem cells via an intravenous drip.
The rare genetic disease is severely debilitating.
People with the condition have extremely fragile skin which is easily damaged, leading to blistering, deep wounds and scarring.
About 150 children in the UK are affected by RDEB, which is painful and causes itchiness.
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 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 said Gabrielius 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.
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 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.'
RDEB is a genetic condition which is 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 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.
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.
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.
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 be well tolerated by the children.
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.
Chief investigator of the study, 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 added: '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, said: '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.'