Dr Philippe Wolgen
CEO, CLINUVEL
Dr Geoff Sloan
Consultant Anaesthetist, Salford Royal and EPP Patient
Light is a source of agonising pain for patients with a rare condition called erythropoietic protoporphyria. As a result, they have been forced to cover up and live sheltered lives.
Imagine experiencing extreme, searing pain every time you are exposed to light — sunlight or, in some cases, fluorescent or LED. It would be agony — physically and emotionally. Yet, that’s what some patients with erythropoietic protoporphyria (EPP) deal with daily.
What is erythropoietic protoporphyria?
EPP is a rare, inherited, metabolic condition — caused by abnormally low levels of the ferrochelatase (FECH) enzyme — where light exposure triggers a severe phototoxic reaction. Damage is caused at a vascular level, deep within skin. Symptoms include intolerable pain and swelling, most commonly on the hands, arms and face, which typically last for several days and do not respond to pain medications. As patients are at risk of second-degree burns and incapacitating ulcers, they are shielded from light sources and the outdoors. At school, affected children can be cruelly stigmatised as ‘vampires’ by their peers.
“EPP patients are handicapped for life, often have a depressive mood disorder and some have suicidal ideation since they are not able to participate in normal life,” explains Dr Philippe Wolgen, CEO of biopharmaceutical company, CLINUVEL.
When I was a teenager, I remember
feeling embarrassed about EPP
because no one had heard of it.
Personal stories about how EPP affects patients’ lives
Dr Geoff Sloan, Consultant Anaesthetist at Salford Royal, knows its impact only too well as an EPP patient. “My parents told me that when I was a baby, they would take me out in the pram, and I would start intractable screaming that would last for hours and days,” he says. “As a child, I remember periods of horrible, intense pain after exposure to sunlight. Now, I try to avoid it.”
Another patient, now 27, remembers her painful symptoms beginning when she was nine years old. She was 15 before a consultant dermatologist diagnosed her with EPP. She was prescribed high doses of antihistamines to reduce inflammation and sun lotions that reflect visible light — but no medication was available to treat the underlying cause.
“I’m mainly symptomatic in the summer,” she says. “Even so, when I was a teenager, I remember feeling embarrassed about EPP because no one had heard of it, and at that age, you don’t want to be different. Now that I’m older, I actively do things to prevent symptoms and make my condition more manageable. If I’m out with friends in sunny weather, I’m completely open about taking antihistamines or applying lotion.”
How a treatment has made a life-changing difference
However, in March, she started receiving treatment as part of a patient access scheme with NHS Scotland, and life improved dramatically. “It’s made a massive difference, mentally and physically,” she admits. “I’ve been on holiday to Croatia and Italy and able to wear a bikini and sunbathe. Ordinarily, I’d have been anxious about symptoms developing — but not this time.”
Dr Sloan also received treatment when he took part in the first CLINUVEL drug trial around a decade ago. “It was life-changing,” he says. While the drug is approved in the UK, it is not reimbursed by the NHS in England, Wales and Northern Ireland. Dr Wolgen finds this perplexing.
“According to prescribing physicians and EPP patients, with the treatment, they can now live a life they’d never imagined, providing them freedom from burns,” he says. “For the first time, patients go outdoors, enjoy life with their families and lose anxiety of ulcerations, scarring and untreatable pain.”
The company is now developing treatment for EPP’s ‘sister disease’, variegate porphyria (VP) — where patients experience blisters within hours of exposure to daylight — and xeroderma pigmentosum — or ‘children of the moon’ who are 10,000 times more at risk of skin cancer. “Seeing the response from patients and their families is an unexpected gift each day,” says Dr Wolgen. “Words cannot describe the satisfaction of developing effective drugs with minimal side effects for thousands of patients.”
