Jennifer Beck had learned to cope with her disability. She’d park close to buildings to limit her sun exposure. She’d avoid bright patches of sunlight, even indoors. She’d wear long sleeves on hot summer days. “Yes, I know it’s hot,” she would respond to people who thought it was funny to comment.

But then in April of 2017, for no apparent reason, her condition got much worse. Instead of just being sensitive to the sun, she began to react to all light. Even under a lightbulb, her skin would begin tingling. If she didn’t get away from it within a minute or two, the 50-year-old Beck would feel like someone was pouring boiling oil on her hands and face.

With her condition, called erythropoietic porphyria, once the full-blown reaction to light starts, nothing treats the pain except time. And there is only one medication that can prevent the symptoms: a drug called afamelanotide, which is only available in Europe — and almost didn’t make it to market at all.

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That could change soon. An Australian-based drug maker hopes to secure priority review from the Food and Drug Administration for its treatment — the same one available in Europe — as early as next year.

Approval would be a relief to the 600-some patients with the condition in the United States. But it would also serve as testament to how difficult it can be to get treatments for rare diseases onto the market.

“The journey of not knowing what to do with this molecule took 20 years,” said Philippe Wolgen, the CEO of Clinuvel, the drug maker behind the treatment.

Erythropoietic porphyria, or EPP, is caused by a genetic mutation that leads to a buildup of the chemical protoporphyrin in the skin, making it extremely light sensitive. Many patients report that if they ignore the initial tingling sensation and don’t get out of the light immediately, they feel intense pain, usually in their hands or face, which can last hours or days, in addition to redness and swelling. Some patients have worse symptoms than others, or report changes in symptoms, like Beck did.

The treatment made by Clinuvel essentially works by increasing production of melanin, tanning the skin and protecting it from light, said Dr. Karl Anderson, an expert in porphyria-related diseases at the University of Texas Medical Branch at Galveston. Patients on the treatment can stand to be out in the sun, so they can tan a bit naturally, which provides more protection.

The medication is delivered via an implant the size of a grain of rice — a method chosen to discouraging people from using it as a tanning product.

Jennifer Beck
Beck at the airport on the way to Zurich for treatment in August 2018. Courtesy Jennifer Beck

Wolgen said that Clinuvel developed the molecule back in 1995, but wasn’t sure what indication to address with it. The company decided in 2005 to focus on EPP.

One of the company’s challenges, though, was that no one had ever effectively treated light sensitivities like EPP before, so no one knew how to measure a drug’s effectiveness against it. Clinuvel had to devise a way to quantify the effects of light on biology.

“Innovation is not enough. You need an entirely new environment,” Wolgen said.

There was also the business challenge. Clinuvel took a major financial risk going after such a small market, Wolgen said. First, it wanted a guarantee that someone would pay for it. It took Clinuvel agreeing to subsidize nearly 80 percent of the drug’s cost for Switzerland and Italy to agree to make up the rest.

For patients, the results have been “totally life-changing,” according to Desiree Lyon, executive director of the American Porphyria Foundation.

“I would be the first one to go out in the street and yell” its praises, she said, complimenting Clinuvel for sticking with the drug.

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Lyon, who does not have EPP herself, said she’s talked with virtually every patient who has volunteered for clinical trials of the drug, and watched their lives dramatically improve on the drug, with no significant side effects. Patients were so eager to participate in research that 90 people signed onto one trial within a month, she said.

The clinical trial was placebo-controlled, she said, but patients knew right away if they were getting the active drug. “I mean the change was immediate,” Lyon said. “When they got this real drug, they came from being shrouded everywhere they go … to being able to go to the beach, being able to go to work without being covered up.”

But the drug is not cheap — it runs about $16,000 for an eight-week dose.

The FDA granted the treatment an orphan drug designation in 2008, providing incentives for its development. A successful clinical trial was published in 2015 in the New England Journal of Medicine, and the drug has 10 years of safety data from its use in Europe.

Still, it’s been tricky to design and conduct a study to show that symptoms are improved or prevented, said Anderson, the expert at the University of Texas.

Jennifer Beck
Beck at her home in Connecticut. Steven G. Smith for STAT

Clinuvel is awaiting validation of its new drug application, which the company hopes will come within the next few weeks. After validation, the drug will receive a Prescription Drug User Fee Act – or PDUFA – target date for FDA review. After that, if it receives priority review, the drug could be approved in six to 12 months, or 12 to 24 months for standard review.

For now, because it hasn’t yet been approved yet in the U.S., any American who wants to use the drug has to pay their own way for the medication and travel costs to get it.

When Beck’s condition worsened and her life closed in on her, she decided those costs were worthwhile.

She and her husband took out a loan against their home in Cromwell, Conn., held fundraisers, and accepted donations. “It’s been a serious lesson in how to be thankful and how to receive graciously,” said Beck, an occupational therapist and mother of four. “When someone you know who’s 90 years old sends you a $5 bill, it breaks your heart.”

The roundtrip airfare to Zurich, plus the therapy, ran the family $120,000 over the course of a year. But she can endure lightbulbs now, and her cover-up clothes sit folded in a dresser. Even the sun — which she avoided since before she could walk — is no challenge.

She told her story by phone while sitting on the back deck she formerly used only at night.

Beck recently experimented to see if she could make it 10 weeks between treatments, instead of the usual eight, but the gap left her very uncomfortable. She’s praying that her insurance, which did pick up the cost of her September dose, will continue paying. Even if the drug is approved in the United States, it’s unclear whether how much insurance might cover.

Regardless, Lyon, the foundation director, said she thinks it’s well past time for the drug to win FDA approval.

“All the experts are very much behind this drug,” she said. “We need it desperately.”

Correction: An earlier version of this story misspelled Clinuvel.

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  • light sensitive people most likely have 4% Neanderthal DNA gene allowing their skin to absorb more light in northern climates.check their vitamin D levels. Avoid the beach & desert at all costs & move to Iceland, Russia, Scotland. research genetic ancestry of afflicted people. During Ice Age in Northern Europe these were the survivors. VWG

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