The lives of hundreds of people with a rare skin condition could be transformed by a breakthrough treatment, with the Government being urged to secure a supply of the drug as soon as possible.
Some 300 people in Ireland have a form of epidermolysis bullosa (EB) or “butterfly skin”, which causes the skin to blister at the slightest touch, requiring bandage changes every 24 to 48 hours to prevent infection. The genetic condition can be extremely painful, and in its most severe forms carries a heightened risk of infection and cancer as people age. However, new treatments have emerged, including a gene therapy gel (Beremagene geperpavec or B-VEC), that helps to heal the blisters.
In US clinical trials 67 per cent of patients reported that their wounds healed completely after six months. The American firm behind the treatment, Krystal Biotech, is now seeking approval from the Federal Drug Administration in the USA, with approval from the European Medicines Agency (EMA) likely to follow.
Debra Ireland, the charity which supports EB patients and their families here, said the Irish Government needed to prioritise securing the treatment.
Jimmy Fearon, Debra Ireland CEO, said: “It does not cure it but if a four-hour bandage change suddenly becomes an hour or two hours that is transformational. It is an unbelievable difference to their lives,” he said, adding that it could be particularly beneficial to children with the condition. “You could hopefully control it more with [the treatment].”
While Debra Ireland expects FDA approval in America for the gel in May, with EMA approval likely to follow soon afterwards, it is concerned that Ireland’s slower adoption of new treatments means people here may end up waiting for longer.” That is the bit that is going to drive us insane – it could be three to four years if not longer before it touches Ireland.”
With the UK, alongside countries such as Germany and Austria, likely to acquire the treatment soon after European approval, Mr Fearon said it could lead to a scenario where someone in the North had access to the gel but someone on the other side of the Border would not. “We plan to become more vocal and to try and get people to listen,” he said.
EB is rare, affecting one in every 18,000 people, but Debra Ireland said those people have to contend with an extremely painful condition which often requires high-intensity care. In very mild cases of EB only the skin is affected but in more severe cases the internal linings of the body, such as the mouth, oesophagus and intestines, can be badly impacted by the condition.
Liz Collins, whose daughter, Claudia (19), has the severest type of EB, said of the Krystal treatment: “You live in hope of something. It is not a cure, it is something that will ease their life or ease their pain in some way shape or form.”
Claudia, from Terence in Dublin, has sat her Leaving Certificate and has started college, and Liz said: “If there was one simple thing like this to help her ease her suffering in any way I would gladly take it.”
She said some of her daughter’s wounds had not closed in years and added: “It is a race against time really. The bigger the body, the more wounds, and I suppose the hopelessness you feel, the dressings four hours a day every second day, knowing it is the same wounds. I am not saying you lose hope but you want something that would help them.”