Epidermolysis bullosa (EB) is a disorder that causes the skin to become fragile, resulting in frequent breaking and blistering. The disease, which usually starts at a very young age, can be potentially life-threatening due to complications..
There is no cure for EB, and there are no treatments designed specifically to manage the symptoms. However, with ongoing research, understanding of the cause of EB has grown. This has led to the identification of several potential treatments, and clinical trials are ongoing to assess if they can provide a benefit to patients with EB.
The cause of EB is generally a mutation in a gene that produces essential skin proteins, resulting in a faulty protein, or none at all. Potential therapies aim to restore this by supplying cells that have the correct gene to the body, inserting the correct gene, or directly supplying the correct protein.
Following are examples of the ongoing research into the treatment of EB.
Cell therapy relies on transplanting cells from healthy donors into patients. Previous studies transplanting healthy bone marrow stem cells into patients’ with recessive dystrophic EB (RDEB), suggested that treatment reduced the formation of new blisters and significantly increased wound healing.
A Phase 2 clinical trial (NCT01033552), currently recruiting participants, takes stem cells from bone marrow or umbilical cord blood of healthy donors and transplanting them into patients.
Fibrocell is developing a cell-based platform called FCX-007 to deliver a functional copy of the COL7A1 gene, which produces an essential skin protein that can be mutated in RDEB patients. The cells are harvested from the patient, transfected with the healthy copy of the gene, and delivered back into the body via an injection. A Phase 1/2 trial (NCT02810951) testing this approach is recruiting participants.
Other examples of gene therapy include:
- Gene transfer via a skin graft (LZRSE-Col7A1 Engineered Autologous Epidermal Sheets), being developed at Stanford University and in Phase 1/2 clinical trial (NCT01263379)
- GENEGRAFT, another method of delivering a functional copy of the gene via a skin graft, is in development as a collaboration between multiple European research groups.
Successful preclinical trials, delivering a functional copy of C7 (collagen Type VII, an essential skin protein) to a mouse model of EB, have been carried out. Small trials also have been conducted successfully in inbred dogs with EB-like symptoms. However, no clinical trials in protein therapy have been initiated in humans.
Experimental therapies for wound healing
There also is significant research ongoing into therapies to improve the quality of life of people with EB, including treatments to facilitate wound healing. Many of these are in clinical trials, including:
- CCP-020 cream, developed by Castle Creek Pharmaceuticals, which is in a Phase 2 clinical trial (NCT03154333) to treat EB Simplex.
- BPM31510 cream is in a Phase 1 trial (NCT02793960) conducted by the University of Miami and Berg Health.
Epidermolysis Bullosa News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.