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out of the shadows: new epp sun disease drug trial gives people hope for a brighter future
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kris kinar, here with his family, worried extensively about passing on epp to his three children.
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imagine not being able to go out into the sun, feel its warmth on your skin and enjoy hot days out in nature with your friends. it’s a little challenging to consider, but for kris kinar and hundreds of other canadians, that is their reality.
they have erythropoietic protoporphyria, or epp for short, a rare, inherited metabolic disorder that causes severe pain and burning when exposed to blue light from the sun, even for only a few short minutes. because it starts within the body as a metabolic disorder, the pain and burning on the skin are often invisible until it gets incredibly severe, if at all.
kinar’s epp remained a mystery until he was in his mid-30s. before then, he was forced to deal with the condition by hiding from sunlight as much as possible, or by facing the consequences if he had no choice but to go outside under it. because it was blue light rather than uv light that affected him, sunscreen did nothing and there were no treatments available.
“it was probably worse than i’m willing to remember,” said kinar of his childhood living with epp. “i know there were people who were unkind about it, because you’re sitting inside at recess, you’re sitting inside at lunch, you’re not doing what everybody else is doing. so, you’re obviously different.”
the experience could be isolating at times, with kinar always having to protect himself from the sun’s rays in any way he could, whether that be jumping from shadow to shadow to get to his car as an adult, or covering up as much as possible if he couldn’t avoid the sun.
living with symptoms and uncertainty
along with the symptoms of epp and having to “retreat” into himself, kinar had another worry surrounding his disease that he couldn’t shake when he and his wife started talking about having a family. they have three children now, all in their teens, but the concerns of whether or not he would pass the disorder to his children were unignorable.
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“that weighed very heavy on me,” kinar said. “what’s the chances of them inheriting it? what’s the chances of them maybe not inheriting, but becoming carriers? what’s the impact of them moving forward as they grow up and become adults and start families of their own? it was scary.”
when his children were babies, kinar would take them out in the sun a few minutes at a time to wait and see if they had a reaction. it was the only way he could find out whether they had a reaction to the sun that would confirm epp. none of his children inherited epp, for which kinar is “as happy as can be” that they don’t.
“it must have been something for my parents,” he said, recounting that he could only imagine what it was like having a son with undiagnosed epp. “fortunately, that’s all i have to do is imagine.”
“but for them, when there was no support for so long in my life, in prince albert (in saskatchewan), where i was born and raised, we did go to doctors. there was as much testing as the doctors were willing to do at the time or able to,” he said. “dermatologists, allergists, internists, to whatever extent, but obviously none of them knew really what to look for.”
kinar is incredibly family-oriented, empathizing with his parents’ experience, rejoicing in the fact that his children don’t have epp and grateful for his wife, who “really held the fort down” when he was travelling for work.
“my wife, as well, has been a champ in so many ways,” he said. “(i have) a huge, huge amount of respect and all that to parents and families and friends for everybody that’s got epp.”
a new trial provides hope for patients with epp
even though kinar has dealt with epp all his life, he continued to look for potential solutions to his disorder. eventually, he met dr. amy yeung, a physician and researcher at mass general brigham who understands both the science and the lived experience of epp—she has the disorder, too.
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“as a kid, you’re trying every different cream or medication, like nothing worked,” she said. “opioids don’t even work for the pain of epp. you just have to sit in a dark room for days until it goes away, so it’s quite severe and miserable.”
even covering up completely doesn’t always work against epp, as clothes aren’t always thick enough to block the light that causes symptoms.
living with and seeing patients with epp inspired dr. yeung to search for a solution, and she has led several clinical trials for epp throughout her career to help others like herself and kinar. it’s “been really rewarding” for her.
the latest clinical trial is the only one that’s yielded something viable, changing the trajectory of epp treatment for all patients currently living with it.
the medication, known as bitopertin, is in phase two of trials, and it works to address the root cause of epp by inhibiting the uptake of glycine into red blood cells, thereby reducing protoporphyrin levels, an organic compound found in the body that, when it exists in high amounts, causes sensitivity to light that drives symptoms.
the trials have shown great promise, with the medication reducing protoporphyrin by 50 per cent in high doses.
“it’s really remarkable how well people have done on the medication, people like kris, who have remarkable improvements in light sensitivity,” said dr. yeung. “it’s really exciting (because) some of the other therapies that have been tried, there’s a medication called beta-carotene that has been tried for epp, a lot of patients with epp have tried it. it just turns their skin orange and doesn’t do anything.”
the oral medication also addresses access issues, which, if it makes it through trials and passes through to fda approval, would be “a lot easier to get.”
a life-changing trial and hope for a literally brighter future
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before the trial, kinar could spend mere minutes outside per day, whether that be cumulative or spread throughout the day, without having a reaction. anything above that, and the pain would return.
“so, that might be two minutes here, a minute here, when i leave my office and bounce among shadows to get where i have to get to, or manipulate a situation so that i am standing in exactly the right spot where i’m as shaded as possible,” he said.
kinar, who has found relief from the trial, feels lucky to have access to the drug that’s allowed him to go without reactions to the sun.
“four days after actually beginning the trial and having the trial medication, which you don’t know if you’ve got the medication or the placebo, i woke up and went outside on my deck,” he said. “i immediately went from that eight-minute average per day, and that day was outside for 127 minutes … i can’t even describe it, you can do like absolutely anything that you want.”
while people with epp outside the trial will have to continue to wait for relief as the medication goes through its final rounds of assessment, having something actually work for epp is a huge success for those who have had to hide in the shadows, like kinar, just to get through the day.
“there’s so much hope for everybody that exists right now that has it, but for the next generations coming,” said kinar.
with a medication like this widely available, people won’t have to worry about whether they can go to their friend’s wedding in exchange for days of agony. they won’t have to think about where they park on a sunny day when going grocery shopping, or if they should drive through the night on a vacation to avoid the sun harming them during the day. they can hang out with their friends without thinking about the pain that may come next, and for kinar, knowing that people who are born with epp now won’t have to do that calculating around everything in their lives is “unreal.”
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