Gabrielius Misurenkovas, a 12‑year‑old from east London who has lived with the devastating fragility of recessive dystrophic epidermolysis bullosa (RDEB) since infancy, has seen many of the daily burdens of his condition ease after taking part in a pioneering stem‑cell infusion trial. According to reporting on the study, the boy’s wounds healed faster, his skin was less inflamed and itchy, and he gained small but meaningful freedoms — cycling on grass and playing football with friends — that were previously impossible without risk of painful blistering. These improvements prompted hope among clinicians and families that the therapy could offer the first disease‑modifying effect for some children with RDEB. (This account is based on the original clinical report and hospital commentary.)

RDEB is a genetic disorder caused by mutations in COL7A1 that impair production of type VII collagen, the protein that binds the skin’s layers together. The condition leaves skin extraordinarily fragile: minor friction or pressure can cause blistering, deep wounds and scarring, and ongoing inflammation. Over time many patients develop aggressive cutaneous squamous cell carcinoma (cSCC) at a young age, a complication that is a leading cause of death in RDEB. Clinicians and patient groups have therefore long sought therapies that not only relieve symptoms but might reduce long‑term cancer risk by limiting chronic injury and inflammation.

The therapy at the centre of Gabrielius’s care is CORDStrom, an off‑the‑shelf product of umbilical‑cord derived mesenchymal stromal cells (MSC) delivered intravenously. The treatment was evaluated in MissionEB, a randomised, double‑blind, placebo‑controlled crossover trial run at Great Ormond Street Hospital and Birmingham Children’s Hospital. Trial documentation and coordination information describe a rigorous protocol with an internal dose‑de‑escalation safety phase, blinded treatment and a planned 12‑month open‑label extension to monitor longer‑term effects. The study recruited children with intermediate or severe forms of RDEB and used validated clinical measures to assess outcomes.

In practice the therapy was administered as a short intravenous infusion over roughly 10–15 minutes. The randomised scheme meant roughly half of participants received two infusions of the cell product over a two‑week period while the others received placebo; after a nine‑month wash‑out the groups crossed over so each child had the opportunity to receive the active treatment. The published protocol specifies dosing in the range of 2–3×10^6 cells per kg, with safety monitoring and pre‑defined outcome measures, including change in disease activity at three months as a primary endpoint.

Early results reported by investigators and by the company supplying the cells indicate age‑ and severity‑dependent benefits. Families and clinicians documented reductions in itch, improved wound healing and better skin scores, with the most notable gains seen in younger children and those with the intermediate form of RDEB. Parents reported improvements in everyday wellbeing such as less disturbed sleep because dressings were needed less often, and children described being able to try activities they had previously avoided. The study authors emphasised that the therapy was generally well tolerated by the young participants.

The manufacturer, INmune Bio, characterised the MissionEB data as showing a favourable benefit–risk profile and said there were no serious treatment‑related adverse events. The company has signalled its intent to pursue regulatory approvals in multiple jurisdictions and noted orphan and rare paediatric designations from US regulators, while also describing a data‑licence arrangement with Great Ormond Street Hospital and plans for continued supply to trial participants. These claims come from the company’s own press materials and should be understood as the company’s position while regulatory review and independent peer assessment continue.

Families’ voices have been prominent in trial reports. Gabrielius said he joined the trial hoping to be able to “do more of the things I enjoy, like playing football and spending time with my friends,” a comment reported in the initial coverage. His mother, Jolita Cekaviciene, told reporters that her son “did really well on the trial” and described practical benefits such as reduced itch and less frequent dressing changes. Lead clinicians, including the trial’s paediatric dermatologist, highlighted the safety signal and the potential for early, regular infusions to reduce inflammation and, in time, possibly lower the future risk of squamous cell carcinoma — a cautious formulation that reflects the need for longer follow‑up.

Caution remains essential. The MissionEB study, while randomised and placebo‑controlled, involved a relatively small cohort and uses a crossover design; the principal published protocol sets the primary efficacy read‑out at three months and plans a 12‑month open‑label extension. That extension is intended to capture longer‑term safety and durability of effect, which will be critical to determining whether repeated MSC infusions can meaningfully alter the disease trajectory and potential cancer risk. Independent reviewers and patient groups stress the need for larger, longer studies and for regulatory scrutiny before any widespread adoption.

For families and the rare disease community the early findings represent guarded optimism. Patient charities and funders that supported MissionEB described the results as an important step toward making MSC infusions part of routine clinical care for children with RDEB, but all parties and clinicians emphasise that further follow‑up, publication of full peer‑reviewed results and regulatory evaluation are required before that promise can be realised. In the meantime the trial offers a tangible improvement in daily life for some participants and a clearer roadmap for subsequent research.

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Source: Noah Wire Services