Hope for Young Patient with Rare Skin Condition Following Groundbreaking Trial
A 12-year-old boy from East London, Gabrielius Misurenkovas, who suffers from a rare and debilitating skin condition, has experienced a glimmer of hope after participating in a pioneering clinical trial. Gabrielius was diagnosed with recessive dystrophic epidermolysis bullosa (RDEB), an inflammatory genetic disorder, in his infancy. This condition causes extreme skin fragility, where even the slightest friction can lead to painful blistering, deep wounds, and severe scarring.
Approximately 150 children in the United Kingdom are affected by RDEB. The condition is not only intensely painful but also causes persistent itching. Currently, there is no cure or disease-modifying treatment available, leaving patients and their families to manage the symptoms through meticulous wound care, including frequent dressing changes and the application of specialised eye ointments. Over time, RDEB can lead to serious health complications, with many patients developing squamous cell carcinoma, a type of skin cancer, in their young adult years. Sadly, this is the most common cause of death for individuals living with RDEB.
Gabrielius’s Journey and the Promise of Stem Cell Therapy
Gabrielius has been under the care of specialists at Great Ormond Street Hospital (GOSH) since he was a baby. When his doctors presented the opportunity to join a clinical trial for a potential new treatment, he eagerly accepted. “I wanted to take part in the trial because I was excited to see if it could help improve my condition, so I could do more of the things I enjoy, like playing football and spending time with my friends,” he explained.
Before the trial, Gabrielius, a multilingual youngster and avid Lionel Messi fan, required bandage changes up to three times a day, and even more frequently if he sustained an injury. The trial involved receiving specific stem cells via an intravenous drip, and the results have been encouraging.
Positive Outcomes from the Clinical Trial
Gabrielius’s mother, Jolita Cekaviciene, has reported 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 reduced his 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.”
The treatment has enabled Gabrielius to participate in activities that were previously impossible for him. He has been able to join in some sports at school, ride his bike on the grass in the park, and even play football with his friends using a soft ball. While he still needs to exercise caution to avoid injuries, the trial has afforded him a greater sense of freedom.
Understanding Recessive Dystrophic Epidermolysis Bullosa (RDEB)
RDEB is a genetic condition resulting from a defect in 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 (MSCs) could alleviate symptoms in children with RDEB. Previous research suggested that MSC treatments could promote wound healing, reduce inflammation, and stimulate tissue regeneration.
The Clinical Trial Protocol
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. Gabrielius was among 30 children who participated in the clinical trial at GOSH and Birmingham Children’s Hospital.
The treatment involved hospital visits for infusions, where the cells were administered via a drip over a period of 10 to 15 minutes. Participants were divided into two groups. One group received the CORDStrom treatment, derived from umbilical cord tissue, twice over two weeks, while the other group received a placebo. Following a nine-month “wash-out” period, the groups were switched, with the initial placebo group receiving the CORDStrom treatment and vice versa.
Published Results and Future Prospects
The findings of the study, published in the journal eClinicalMedicine, indicated a positive outcome from the treatment, particularly in children under the age of 10 and those with intermediate RDEB. Families involved in the study reported improved daily life and well-being, with a reduction in both pain and itching. The treatment was also reported to be well-tolerated by the children.
INmuneBio has committed to providing CORDStrom free of charge for one year to all children who participated in the trial, allowing researchers to continue monitoring their progress. Patients are expected to receive two infusions of the treatment every four months. The company is currently seeking regulatory approval for the treatment, aiming for its widespread availability in the UK and other countries.
Expert Perspectives
Dr Anna Martinez, paediatric dermatologist at GOSH and chief investigator of the study, commented: “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 that the 12-month open-label study will enable researchers to gather further data to demonstrate the benefits of the treatment in children and young people with RDEB, supporting its wider implementation.
Sharmila Collins, founder trustee of Cure EB, stated: “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.”