Nov 19 2021 Mission EB is underway!
In collaboration with Great Ormond Street Hospital and Children’s Charity (GOSH) and the NIHR we are so pleased that Mission EB has started, the first large-scale stem cell clinical trial for children with EB.
Researchers from GOSH have begun the largest ever stem cell clinical trial for children with EB. The study, in collaboration with clinicians from Birmingham’s Children’s Hospital, is aiming to treat 36 children who have Recessive Dystrophic EB (RDEB) – the one of 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.
“Having provided the funding for the initial (EBSTEM) trial we are thrilled to be collaborating on this next stage, …. The excellent team at GOSH are pushing boundaries to show that there is hope for a different future possible for those children suffering daily with the horrific realities of life with RDEB.” Sharmila Collins, Cure EB
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.
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.
Gabrielius, age nine from Dagenham, is one of the participants in the trial. For him and his mum Jolita there is a hope from his enrolment in the current EB trial, that one day his EB won’t be as severe. Jolita said: “I know it won’t make RDEB go away, but if it might even lessen some of his wounds, redness, or pain during the day, it would be amazing for Gabrielius.” You can read Gabrielius’s full story on the GOSH website.
The trial has been made possible thanks to over £4.5 million of funding from the National Institute for Health Research (NIHR) in partnership with NHS England and NHS Improvement as well as a grant from Cure EB. The University of Sheffield Clinical Trials Research Unit (CTRU) has been overseeing the study and working closely with the GOSH research team over the past 3 years.
How will the trial work?
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 NHSE/I 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.”
Sharmila Collins, Founder and Trustee of Cure EB, said: “Having provided the funding for the initial (EBSTEM) trial we are thrilled to be collaborating on this next stage, a new potentially transformative treatment study. The excellent team at GOSH are pushing boundaries to show that there is hope for a different future possible for those children suffering daily with the horrific realities of life with RDEB. We hope that this will be a first and pave the way for increasingly more effective treatments which cannot come soon enough for those with EB suffering pain every second of every minute of every day.”
The lead clinical study team based at GOSH are Dr Anna Martinez, Dr Gabriela Petrof, Dr Maria Bageta and Pablo Lopez Balboa who have been working with the University of Sheffield Clinical Trials Research Unit at the School of Health and Related Research (ScHARR) led by Professor Cindy Cooper. The ScHARR team are Rachel Glover, Professor Steven Julious, Dr Munyaradzi Dimairo, Diana Papaioannou, Professor Paul Tappenden, Katie Biggs, Emily Turton, Simon Waterhouse and Louise Turner. The Birmingham Children’s Hospital site will open early next year.