New treatment provides relief for light sensitive patients

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For most of us, sunlight is essential for good health. It provides a dose of Vitamin D and has been shown to improve mood and may even lower blood pressure. But for people with extreme sensitivity to light, even a few minutes in the sun can cause searing pain, and no amount of sunscreen will help.

Now, a new treatment is allowing some patients to step into the light.

Andrew Turell looks just like any other confident, young professional, but just a few months ago, he would have stood out in a lunchtime crowd.

"I was always wearing a long-sleeved collared shirt, and running from shadow to shadow as I was walking down the street," Turell said.

Andrew has a genetic condition known as EPP that makes him ultrasensitive to light.

"My parents remember bringing me on beach vacations and I would be up all night, screaming in pain," Turell explained.

Andrew's skin rarely burned, or showed any sign of the condition, making it difficult to diagnose.

Manisha Balwani, M.D., M.S., Associate Professor at Icahn School of Medicine at Mount Sinai said, “You may not see anything. For some people, you may see redness and swelling during that acute phase.”

Dr. Balwani is a genetics expert who was one of the investigators on a US trial of a new drug to treat EPP, a synthetic hormone called afamelanotide.

"It's about the size of a rice grain that's inserted under the skin in the subcutaneous tissue by a needle," Dr. Balwani stated.

The drug is released slowly over several days, and protects EPP patients for about two months.

"Within a few days, it starts giving these patients, a natural tan. This tan acts as a barrier against the sun," Dr. Balwani explained.

For Andrew, the implant has finally allowed him to enjoy the outdoors again, free of pain.

Although the trial has ended here, Andrew now travels to Europe to receive the implant.

The drug is approved for use in Europe, but is still considered investigational in the US. The recent trial was for adult patients and Doctor Balwani says additional study on pediatric patients is needed.

To read the research summary for today's story, click here.