A young boy from East London living with a rare and debilitating skin condition has experienced newfound hope thanks to his participation in a clinical trial. The trial is investigating a potential treatment for his genetic disorder, recessive dystrophic epidermolysis bullosa (RDEB).
Gabrielius Misurenkovas, 12, was diagnosed with RDEB, an inflammatory disease, in infancy. Even the slightest friction can cause damage to his fragile skin. However, a new trial involving intravenous infusions of specific stem cells has brought about significant improvements in many of his symptoms.
Understanding Recessive Dystrophic Epidermolysis Bullosa (RDEB)
RDEB is a severely debilitating genetic condition characterised by extremely fragile skin. This fragility leads to blistering, deep wounds, and extensive scarring from even minor bumps or rubbing. Approximately 150 children in the UK are affected by this painful and itchy condition.
Currently, there is no cure for RDEB. Treatment focuses on managing symptoms, primarily through meticulous wound care, including dressing changes and the application of special eye ointments. Over time, RDEB can lead to serious complications, including an increased risk of developing squamous cell carcinoma, a type of skin cancer, at a young age. This cancer is the most common cause of death for individuals with RDEB.
Gabrielius’s Experience with the Clinical Trial
Gabrielius has been under the care of specialists at Great Ormond Street Hospital (GOSH) since he was a baby. When his doctors suggested he participate in the clinical trial, 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, who speaks three languages and is a devoted fan of Lionel Messi, required bandage changes three times a day, or even more frequently if he sustained an injury.
His mother, Jolita Cekaviciene, shared her observations: “Gabrielius did really well on the trial. His wounds healed quicker, and his skin was less red and inflamed. His skin was also less itchy which also reduced him scratching.” She added, “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 trial has enabled Gabrielius to engage in activities that were previously impossible. He has been able to participate in some sports at school, ride his bicycle 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 falls or bumps, the trial has undeniably granted him more freedom.
The Science Behind the Treatment
Gabrielius was referred to GOSH shortly after birth when a wound was noticed. He was diagnosed with RDEB at just two weeks old. “The first two years were really hard as you had to watch him constantly – even rubbing his eyes could cause painful blistering,” Ms Cekaviciene recalled. “He couldn’t even tell us how much pain he was in or where he was hurting.”
RDEB arises from 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 (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 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.
Trial Design and Results
Gabrielius was among 30 children who participated in the clinical trial at GOSH and Birmingham Children’s Hospital. Participants received intravenous infusions of cells over a period of 10 to 15 minutes.
The study divided patients into two groups. One group received the CORDStrom treatment, derived from umbilical cord tissue, in two infusions over two weeks. The other group received a placebo, or dummy drug. Following a nine-month “wash-out” period, the groups were switched: those who initially received the placebo received the treatment, while those who initially received the treatment received the placebo.
The findings, published in the journal eClinicalMedicine, indicated a positive outcome for the treatment. The most significant effects were observed in children under the age of 10 and those with an intermediate type of RDEB. Families participating in the study reported a positive impact on daily life and overall well-being, with reductions in both pain and itching. The treatment was reportedly well-tolerated by the children.
Future Prospects
INmuneBio has committed to providing CORDStrom free of charge for one year to all children who participated in the trial, enabling 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, aiming to make it available for use 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. 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 allow for the collection of more data, hopefully demonstrating an increased benefit from treatments administered in children and young people with RDEB, and supporting the wider rollout of the treatment.
Sharmila Collins, founder trustee of Cure EB, expressed her hopes that MSC infusions will become part of routine clinical care to alleviate the significant suffering of children with this condition.