Dr Sagair Hussain
Research Director, DEBRA UK
Dr Joe Wiley
CEO, Amryt Pharma
Advances in scientific understanding provide possible options for a condition which is life limiting and without cure.
Described as the “worst disease you have never heard of,” epidermolysis bullosa (EB) is a rare debilitating skin condition that leaves sufferers with recurrent open wounds, constant pain and extreme discomfort. It has a devastating impact on people with EB and their families.
At present, there are no approved therapies, no cures and people with the condition can spend hours a day having bandages painfully applied and removed.
EB is a group of genetic skin conditions that cause the skin to blister and tear at the slightest touch.
From the mildest form, where only the hands and feet are affected, to the most severe cases with open wounds covering much of the body causing lifelong disability, pain and distress.
Butterfly effect
Dr Sagair Hussain, Research Director at DEBRA UK, a charity supporting patients from children to older individuals and families affected by EB, says it is known as the butterfly effect as the skin is as fragile as a butterfly’s wings.
He says: “With the most severe forms, patients go through a daily routine of putting dressings on blisters which can be all over the body.”
With 5,000 patients in the UK, an estimated half a million worldwide and an unmet need for therapies, DEBRA UK also funds research into the condition. “We are driving a programme of world-class, innovative research looking into therapies such as gene and cell therapy, gene silencing technology and drug re-purposing as well as supporting the next generation of EB researchers in the field,” adds Dr Hussain.
With the most severe forms, patients go through a daily routine of putting dressings on blisters which can be all over the body.
Dr Sagair Hussain
EB support from industry
Amryt Pharma, a global, biopharmaceutical company dedicated to rare diseases, is also involved in and committed to furthering research and scientific understanding of EB which can be devastating not just for those living with it, many of whom are children, but also their families.
CEO Dr Joe Wiley explains that the disease arises because the skin lacks proteins that hold the skin together. Contact with surfaces can rip the skin off and even when having bandages removed, it risks pulling skin off with the constant need to take painkillers.
Possible options for those in the greatest need
Dr Wiley says: “We share the same goal as DEBRA UK and their mission to ultimately find a cure for EB. In the meantime, research and development may allow us to provide possible options to those in the greatest need to bring some alleviation for the awful disease that these patients have.”
