A young boy from east London suffering from a rare and debilitating skin condition is experiencing renewed hope thanks to his participation in a clinical trial. Gabrielius Misurenkovas, 12, was diagnosed with recessive dystrophic epidermolysis bullosa (RDEB) in infancy, a genetic disorder that leaves skin incredibly fragile and prone to damage from even the slightest friction.
Understanding Recessive Dystrophic Epidermolysis Bullosa (RDEB)
RDEB is a severely debilitating condition affecting approximately 150 children in the UK. Individuals with RDEB have extremely delicate skin, making them susceptible to blistering, deep wounds, and significant scarring. The condition is not only painful but also intensely itchy.
Currently, there is no cure for RDEB. Management focuses on alleviating symptoms through meticulous wound care, including frequent dressing changes and application of eye ointments. Over time, RDEB can lead to severe complications, including an elevated risk of developing squamous cell carcinoma, a type of skin cancer, in early adulthood. Tragically, this cancer is the leading cause of death for RDEB patients.
A Promising Clinical Trial at Great Ormond Street Hospital
Gabrielius has been under the expert care of doctors at Great Ormond Street Hospital (GOSH) since he was a baby. When his doctors suggested he participate in a clinical trial exploring a potential new treatment, he eagerly accepted.
“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,” Gabrielius explained.
Before the trial, Gabrielius required bandage changes three times a day, or even more frequently if he sustained an injury. The trial involved regular infusions of mesenchymal stromal cells (MSC), administered via an intravenous drip. Previous research suggested that MSC treatments could promote wound healing, reduce inflammation, and encourage tissue regeneration.
Positive Results and Improved Quality of Life
Gabrielius’s mother, Jolita Cekaviciene, reports significant improvements in her son’s condition since he began the trial. “Gabrielius did really well on the trial,” she said. “His wounds healed quicker, and his skin was less red and inflamed. His skin was also less itchy which also reduced him scratching.”
The positive effects extended to his sleep as well. “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,” Ms Cekaviciene added.
The trial has opened doors for Gabrielius to participate in activities he previously couldn’t enjoy. He is now able to participate in some sports at school, ride his bike in the park on the grass, and even play football with his friends using a soft ball. While he still needs to exercise caution to avoid falls or bumps, the trial has undoubtedly provided him with increased freedom and a better quality of life.
Understanding the Science Behind the Treatment
RDEB is caused by a genetic defect affecting the gene responsible for producing collagen VII, a protein that binds the layers of skin together. The clinical trial aimed to determine whether regular infusions of mesenchymal stromal cells (MSC) could improve symptoms in children with RDEB.
The trial, funded by NHS England, the National Institute for Health and Care Research, and the charity Cure EB, utilised a treatment called CORDStrom, manufactured by INmuneBio. Thirty children participated in the trial at GOSH and Birmingham Children’s Hospital.
The study involved dividing patients into two groups. One group received the CORDStrom treatment, derived from umbilical cord tissue, through infusions administered twice over two weeks. The other group received a placebo, a dummy drug. After a nine-month “wash-out period,” the groups switched, with those initially receiving the placebo now receiving the CORDStrom treatment and vice versa.
Promising Outcomes and Future Prospects
The results of the study, published in the journal eClinicalMedicine, demonstrated a positive outcome for the CORDStrom treatment. The most significant effects were observed in children under the age of 10 and in those with an intermediate type of RDEB. Families involved in the study reported improvements in daily life and overall well-being, along with a reduction in both pain and itching. The treatment was also found to be well-tolerated by the children.
INmuneBio has generously agreed to provide CORDStrom free of charge for one year to all children who participated in the trial, allowing researchers to continue their studies. Patients are expected to receive two infusions of the treatment every four months. The company is currently seeking regulatory approval for the treatment, with the goal of making it available for use in the UK and other countries.
Expert Opinions and Hopes for the Future
Dr Anna Martinez, paediatric dermatologist at GOSH and chief investigator of the study, expressed her optimism about the findings. “Our study has demonstrated that CORDStrom was safe and can help reduce disease activity in some patients with RDEB,” she said. “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.”
Dr Martinez highlighted the positive impact on patients like Gabrielius, noting the improvements in their symptoms and quality of life. She also emphasised the importance of ongoing research. “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,” she added.
Sharmila Collins, founder trustee of Cure EB, echoed this sentiment. “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,” she said. “We hope these cells will become part of routine clinical care to alleviate the significant suffering of children with this condition.”