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First large-scale stem cell clinical trial for children with untreatable ‘butterfly skin’ condition gets underway

Published: 19 November 2021

Researchers have launched the largest ever stem cell clinical trial for children with the severe skin condition Epidermolysis Bullosa (EB) - a rare genetic condition which causes the skin to blister and tear at the slightest touch.

The study - funded by an NIHR and NHS England and NHS Improvement partnership - is being led by researchers from Great Ormond Street Hospital for Children NHS Foundation Trust (GOSH) in collaboration with clinicians from Birmingham Children’s Hospital.

Researchers are aiming to treat 36 children who have Recessive Dystrophic EB (RDEB) – one of the most severe forms of the condition - with infusions of stem cells derived from umbilical cord tissue. It is hoped these infusions will reduce pain and inflammation for months at a time.

Children with RDEB have skin that is damaged by even the smallest amount of friction, which causes severe blistering, deep wounds and scars. It is caused by a fault in a gene that makes collagen, a protein that holds the layers of skin together. Around 100 children in the UK are estimated to have an RDEB diagnosis.

There is currently no effective treatment and the condition gets worse over time, with most children reliant on a wheelchair as they move into their teenage years. Many of those with an RDEB diagnosis will also go on to develop aggressive life-threatening skin cancer in adulthood caused by the accumulated damage to their skin. If successful, this trial will pave the way for routine clinical care for children with RDEB across England.

Initially, the first six months of the trial will focus on treating nine children at GOSH. The researchers will begin treatment in these children slowly which will allow them to monitor its safety, as well as help them to determine the best dosage for the remainder of the trial. Once the safest dosage of the treatment is determined, the next group of children will be able to receive treatment.

Once infused, it is thought that the stem cells move to the sites of damaged tissue, where they signal to other cells in the area to stimulate tissue regeneration, improve wound healing and reduce scarring.

In addition to assessing the children’s pain and the number of hospital visits for the condition, the team will also use blood samples to look for improvement in inflammation and to check for any side effects.

This research is built on the GOSH team’s previous work where they treated 10 children with RDEB using stem cells derived from bone marrow. This work showed the treatment was safe in children, as well as effective in reducing pain and itching for up to six months.

The team are hoping that using cells derived from umbilical cord tissue will improve outcomes. Research has suggested that these cells will be more effective as a treatment because they have a greater ability to grow in number. Umbilical cord derived cells are also easier to obtain than bone marrow derived cells, which can only be sourced through an invasive procedure.

Dr Anna Martinez, study Chief Investigator, said: “RDEB is a devastating disease and treatments cannot come soon enough. Following the encouraging results from our previous study, we have been working at great pace together with our collaborators to get this new study up and running.”

Dr William van't Hoff, NIHR Clinical Research Network Chief Executive, said: “In my paediatric career, I saw the devastating impact of this severe form of EB for children and their families, so I am delighted to see this pioneering trial testing the effectiveness of stem cells in children and young people with this painful and potentially life-threatening condition.

“This multimillion-pound trial has been made possible through a partnership between NIHR and NHS England and NHS Improvement which aims to provide robust evidence and meet unmet need for this rare disease, the effects of which are devastating for patients and their families.”

This study is funded by the National Research Collaboration Programme, an NHS England and NHS Improvement and NIHR partnership, as well as a grant from the EB research charity Cure EB. The research is supported by the NIHR's Clinical Research Network (CRN).

The University of Sheffield Clinical Trials Research Unit (CTRU) is also working with GOSH.

Read more on the study’s project page.

A video featuring the story of a young person with EB and how the condition affects them is available to watch online.

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