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A new drug shrinks tumors to treat a rare genetic disease

VHL is a genetic disease that puts people at higher risk of cancerous and benign tumors in multiple organs. Now, a new drug aims to stop those tumors from growing.

BOSTON — Von Hippel-Lindau disease puts people at higher risk of cancerous and benign tumors in multiple organs, including the kidneys, pancreas, spine, and brain. It's an inherited condition named after the two European scientists who discovered it. Until last year, surgical removal of the tumors was the only treatment, but now, a newly approved therapy may help people with VHL avoid repeated, dangerous surgeries.

From learning to play “Stairway to Heaven” to planning her wedding, 33-year-old Ashley Colburn doesn’t step away from a challenge, even though she’s been completely blind since she was 14.

Ashley has VHL, which caused non-cancerous tumors to form in her retinas. VHL also means a high risk of other tumors. She started showing additional symptoms in 2017.

“I felt ribbons of pain pulsing in the back of my neck when I stood up too fast,” Ashley recalls.

Then, more tumors formed in her brain.

“If not treated, it’s fatal,” said Massachusetts General Cancer Center medical oncologist Dr. Othon Iliopoulos M.D. 

Brain surgery was followed by recovery and Ashley went on to life as a newlywed. Then, about 18 months ago, a sudden, familiar pounding in the back of her head.

Dr. Iliopoulos was about to schedule Ashley for another brain surgery when doctors learned a new drug designed to shrink VHL tumors was close to approval. It’s called belzutifan, also known as Welireg. “We can treat the patients and save them from having the craniotomy,” Dr. Iliopoulos said.

In August 2021, Ashley began taking three pills a day. Five weeks after she started, the drug shrunk her brain tumors by more than 33%. And for Ashley and her husband Patrick, it was a life-changer.

Dr. Iliopoulos said that of the 19 VHL patients he treated with the drug, all had tumor shrinkage. Ashley said she’ll remain on the drug as long as it continues to keep her tumors from growing.

If this story has impacted your life or prompted you or someone you know to seek or change treatments, please let us know by contacting David Bohlman at david.bohlman@wqad.com or Marjorie Bekaert Thomas at mthomas@ivanhoe.com.

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