Gene Therapy for Epidermolysis Bullosa: Current Advances and Future Perspectives

New scientific publications from the EB House

For a long time, the focus of Epidermolysis Bullosa (EB) treatment was on wound care, without addressing the underlying genetic cause. Now, gene therapy approaches are coming to the forefront. Advances in gene therapy, which correct EB-causing mutations and restore functional skin, could open up new possibilities. Researchers at the EB House have summarized the latest developments in a comprehensive review article.

A promising approach currently being tested in clinical studies is ex vivo gene replacement therapy. In this method, the patient’s own skin cells are taken and repaired outside the body by inserting a healthy copy of the faulty gene. New skin is then grown in the lab and transplanted back onto the patient. This therapy has been successful in cases such as a boy with junctional EB (JEB), whose graft remained healthy for years. Similar studies for dystrophic EB (DEB) have shown significant improvements in wound healing and reduced blistering.

Another milestone is Vyjuvek, the first in vivo gene replacement therapy for DEB approved by the U.S. Food and Drug Administration (FDA). Unlike grafting, which requires surgery, Vyjuvek is a topical treatment that directly delivers a healthy copy of the collagen 7 gene into skin cells. Studies have shown significant improvements in wound healing, with some treated wounds remaining closed for months. Although the therapy does not permanently replace the faulty gene and requires regular application, its ease of use represents a major step forward in EB treatment.

Among the most promising advancements is CRISPR gene editing (“gene scissors”), which aims to permanently correct genetic mutation. Unlike Vyjuvek, CRISPR could offer a one-time solution by directly repairing the faulty gene. Advanced CRISPR techniques allow for more precise and safer genetic corrections compared to earlier approaches. Although these therapies are still in development, they could build on the success of Vyjuvek, which has shown that gene-based approaches for EB can be both effective and safe.

Despite all the progress, challenges such as high costs and limited availability remain. However, these developments represent a significant step forward and open up new possibilities for a more effective long-term treatment of EB.

 

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