Epidermolysis bullosa (EB) is a rare disorder, in which a genetic mutation disrupts the production of a protein that holds the skin together. This creates intense and painful blistering externally, and in some cases, on internal organs such as the stomach and esophagus. Patients are commonly referred to as the “Butterfly Children” because of their delicate skin. To read more about this rare disease, click here.
Epidermolysis bullosa simplex type Dowling-Meara (EBS-DM) is one of the most serious forms of EB. Mild skin contact, even just the touch of a caretaker, causes intense pain and blistering. In most other types of epidermolysis bullosa, this happens because the skin is weakened. However, this simplex variety is different. Instead the mutated protein clumps with the other cells, which can cause inflammations.
Johann Bauer, medical director of EB House Austria and head of the University Clinic for Dermatology at PMU, led a study funded by the Austrian Science Fund (FWF). The preclinical trials found that patients with EBS had elevated levels of a protein known as interleukin-1β (IL-1β) in skin cells responsible for keratin production (keratinocytes). This stood out to the researchers. IL-1β is involved in both inflammation and healing wounds, so there was good reason to believe this protein was at the core of the condition.
If high levels of IL-1β can cause the symptoms, what happens when you block the signal for the IL-1β protein? Diacerein, an IL-1β inhibiting medicine which is already used to treat osteoarthritis, helped answer that. The researchers created an altered version of diacerein to test this hypothesis out. Instead of taking a conventional tablet, patients apply the new form to the skin directly.
The results shocked everyone. Not only did they find that blisters went down by 80% after two weeks of treatment, but these effects lasted. The blisters didn’t reappear, even after the treatment stopped.
The results were so exciting and successful, that the research team has put the project on the fast track. They published their findings in Orphanet Journal of Rare Diseases. They also applied to and received orphan drug designation in Europe.
Castle Creek Pharma is developing a version in the US that would be suitable for widespread use. Researchers are topical currently testing effectiveness and safety of the topical ointment. They are recruiting patients in the US, Israel, and across Europe. If you’re interested in learning more about these trials, click here.