Breakthrough Gene Therapy Shows Promise for Recessive Dystrophic Epidermolysis Bullosa Patients

Recent advancements in gene therapy have demonstrated significant benefits for patients with recessive dystrophic epidermolysis bullosa (RDEB), a severe genetic skin disorder characterized by fragile skin and chronic wounds. A groundbreaking study published in The Lancet reports that a single surgical application of prademagene zamikeracel—an autologous cellular sheet modified with the COL7A1 gene—can markedly improve wound healing and reduce pain in affected individuals.

This innovative treatment involves suturing the gene-modified cellular sheet directly onto large, persistent wounds, offering a new hope for those struggling with non-healing wounds. The study was a randomized, open-label phase 3 trial conducted at two centers, involving patients aged 6 years and older who had confirmed diagnoses of RDEB and at least two chronic wounds.

Researchers enrolled eleven patients and matched their wounds in pairs, randomly assigning them to receive either the gene therapy or standard care. Results at 24 weeks revealed that 81% of treated wounds achieved at least 50% healing, compared to only 16% in the control group. Additionally, patients receiving the therapy reported a significant decrease in wound pain—an average reduction of 3.07 points—versus a 0.90-point decrease in controls. Importantly, no serious adverse events related to the treatment were observed.

Dr. Jean Y. Tang from Stanford University summarized, "Our gene therapy approach successfully targeted the most difficult-to-heal wounds, significantly alleviating pain for patients." The study was funded by Abeona Therapeutics, which holds the patent for prademagene zamikeracel.

This promising development marks a stride forward in regenerative medicine for genetic skin diseases, with the potential to transform future treatment options for RDEB and similar conditions.

Source: https://medicalxpress.com/news/2025-06-gene-therapy-effective-patients-recessive.html