A young boy from East London, suffering from a rare and debilitating skin condition, has experienced a surge of hope following his participation in a pioneering trial for a potential new treatment.
Gabrielius Misurenkovas, aged 12, was diagnosed with recessive dystrophic epidermolysis bullosa (RDEB) in infancy. This inflammatory disease causes extreme fragility of the skin, meaning even the slightest friction can lead to damage, blistering, deep wounds, and scarring. Around 150 children in the UK are affected by this painful condition, which also causes severe itching.
Gabrielius has been receiving care at Great Ormond Street Hospital (GOSH) since he was a baby. When doctors suggested he participate in a clinical trial involving the intravenous infusion of specific stem cells, he eagerly accepted. The results have been promising, with many of the painful symptoms of RDEB easing.
The Challenges of RDEB
RDEB presents significant challenges for both patients and their families. Currently, there is no cure, and management focuses on alleviating symptoms through wound dressings and eye ointments. Over time, the condition can lead to severe complications, including an increased risk of developing squamous cell carcinoma, a type of skin cancer that is the most common cause of death for RDEB patients.
Gabrielius’s Experience with the Trial
Gabrielius expressed his enthusiasm for the trial, stating, “I wanted to take part… 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.”
His mother, Jolita Cekaviciene, reported significant improvements in his condition. “Gabrielius did really well on the trial. His wounds healed quicker, and his skin was less red and inflamed,” she said. “His skin was also less itchy, which also reduced him 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.”
Before the trial, Gabrielius required bandage changes three times a day, or even more frequently if he sustained an injury. Now, he has been able to participate in activities that were previously impossible, such as school sports, riding his bike in the park, and playing football with his friends using a soft ball.
Ms. Cekaviciene highlighted that the trial has provided her son with greater freedom, although he still needs to exercise caution to avoid falls and bumps.
Understanding RDEB
RDEB is a genetic condition caused by a defect in the gene responsible for producing collagen VII, a protein that binds the layers of skin together. This deficiency results in the extreme fragility characteristic of the disease.
The Clinical Trial and CORDStrom
The clinical trial aimed to determine whether regular infusions of mesenchymal stromal cells (MSC) could alleviate the symptoms of RDEB in children. Previous studies suggested that MSC treatments could promote wound healing, reduce inflammation, and stimulate tissue regeneration.
The trial, funded by NHS England, the National Institute for Health and Care Research, and the charity Cure EB, utilised a treatment called CORDStrom, produced by INmuneBio. Gabrielius was among 30 children participating in the trial at GOSH and Birmingham Children’s Hospital.
Participants were divided into two groups: one receiving the CORDStrom treatment, derived from umbilical cord tissue, via infusion twice over two weeks, and the other receiving a placebo. Following a nine-month “wash-out period,” the groups switched, with those initially receiving the placebo now receiving CORDStrom, and vice versa.
Positive Outcomes and Future Prospects
The results of the study, published in the journal eClinicalMedicine, demonstrated a positive outcome for the treatment. The most significant improvements were observed in children under 10 years old and those with the intermediate form of RDEB. Families involved in the research reported improvements in daily life and well-being, including reduced pain and itching. The treatment was also reported to be well-tolerated by the children.
INmuneBio has 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 therapy to enable its widespread use in the UK and other countries.
Expert Perspectives
Dr. Anna Martinez, paediatric dermatologist at GOSH and lead investigator of the research, stated, “Our study has demonstrated that CORDStrom was safe and can help reduce disease activity in some patients with RDEB.”
She added, “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 also highlighted the positive impact on patients’ quality of life, as exemplified by Gabrielius’s experience.
Sharmila Collins, founder trustee of Cure EB, expressed hope that MSC infusions will become a routine part of clinical care for children with RDEB in the UK, alleviating the significant suffering caused by the condition.