A young boy from East London living with a rare and debilitating skin condition is experiencing renewed hope thanks to his participation in a clinical trial for a potential breakthrough treatment. Gabrielius Misurenkovas, aged 12, was diagnosed with recessive dystrophic epidermolysis bullosa (RDEB) in infancy, a genetic disorder characterised by extremely fragile skin that is easily damaged, leading to painful blisters, deep wounds, and scarring.
Understanding Recessive Dystrophic Epidermolysis Bullosa (RDEB)
RDEB affects approximately 150 children in the UK. The condition is not only painful but also causes intense itching. Currently, there is no cure, and treatment focuses on managing symptoms through wound dressings and eye ointments. Over time, RDEB can lead to severe complications, including an increased risk of developing squamous cell carcinoma, a type of skin cancer, in early adulthood, which is the leading cause of death for individuals with RDEB.
RDEB is caused by a genetic defect affecting the production of collagen VII, a protein crucial for binding layers of skin together. Even minor friction can cause significant damage to the skin of those affected.
A Promising Clinical Trial
Gabrielius has been receiving care at Great Ormond Street Hospital (GOSH) since he was a baby. When offered the opportunity to participate in a clinical trial, he eagerly accepted. The trial involved intravenous infusions of mesenchymal stromal cells (MSCs), a type of stem cell. Studies have suggested that MSC treatments may promote wound healing, reduce inflammation, and stimulate tissue regeneration.
The clinical trial, funded by NHS England, the National Institute for Health and Care Research, and the charity Cure EB, used a treatment called CORDStrom, manufactured by INmuneBio. Researchers aimed to assess whether regular infusions of MSCs could improve symptoms in children with RDEB.
Gabrielius’s Experience and Improved Quality of Life
Before the trial, Gabrielius required bandage changes three times a day, or even more frequently if he sustained an injury. His mother, Jolita Cekaviciene, reported significant improvements in Gabrielius’s condition during the trial. Wounds healed more quickly, his skin was less red and inflamed, and the itching was reduced, leading to better sleep as fewer dressing changes were required overnight.
The improvements have allowed Gabrielius to engage in activities that were previously difficult or impossible. He has been able to participate in sports at school, ride his bike on the grass in the park, and play football with his friends using a soft ball. While he still needs to be cautious to avoid falls and bumps, the trial has provided him with a newfound sense of freedom.
Ms. Cekaviciene recalls the challenges of the first two years after Gabrielius’s diagnosis: “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.”
Trial Design and Results
The clinical trial involved 30 children at GOSH and Birmingham Children’s Hospital. Participants were divided into two groups: one group received the CORDStrom treatment, derived from umbilical cord tissue, via infusion twice over two weeks, while the other group received a placebo. After a nine-month “wash-out” period, the groups switched, with those initially receiving the placebo now receiving the treatment and vice versa.
The results of the study, published in the journal eClinicalMedicine, showed a positive outcome. The most significant effects were observed in children under the age of 10 and in those with an intermediate type of RDEB. Families reported a positive impact on daily life and well-being, with reduced pain and itching. The treatment was also well-tolerated by the children.
Future Implications and Hope for Wider Availability
INmuneBio has agreed to provide CORDStrom free of charge for a 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 now seeking regulatory approval for CORDStrom, aiming to make it available to patients in the UK and other countries.
Dr. Anna Martinez, paediatric dermatologist at GOSH and chief investigator of the study, stated: “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.”
She added, “It’s fantastic to see how the patients, like Gabrielius, had improvements in their symptoms and their quality of life.”
Sharmila Collins, founder trustee of Cure EB, commented: “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.”
The ongoing research and the potential approval of CORDStrom offer a beacon of hope for children with RDEB and their families, promising a future with improved quality of life and reduced suffering.