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Health & Fit He's the oldest known man with extremely rare Proteus syndrome. He's trying to find a cure.

00:30  04 february  2020
00:30  04 february  2020 Source:   usatoday.com

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At 61, Jerry DeVries is the oldest known man living with a rare , often deadly disease. For the first time, researchers have found a potential cure , and DeVries has volunteered to test it. Arizona Republic.

At 61, Jerry DeVries is the oldest known man living with a rare , often deadly disease. For the first time, researchers have found a potential cure , and DeVries has volunteered to test it.

PHOENIX – Jerry DeVries’ body is constantly changing on him.

When he removes his custom molded black Crocs and peels off his socks, he doesn’t pay much attention to the fact that his pinky toes are as large as his big toes, or to the puffy brain-like tissue engulfing the bottom of his feet.

Instead, he points to a bony outcropping protruding from his right foot.

“That appeared about eight years ago,” he says.

The lesions on his feet are the result of a genetic mutation that causes Proteus syndrome — a genetic mutation that’s so rare, it only affects a few hundred people in the world. The mutation causes asymmetric, mosaic-like overgrowths throughout patients’ bodies. Maybe one leg grows 8 inches longer than the other, maybe bones grow uneven and crooked, maybe a few fingers double in size, or maybe so much extra flesh bulges out from the bottom of their feet that the overgrowth looks like the ridges of a brain.

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13-year- old Bryce Florey has an extremely rare disease called Proteus Syndrome that makes his bones and muscles grow unpredictably. Bryce is the first child

Proteus syndrome is an extremely rare but chronic, or long-term, condition. It causes an overgrowth of skin, bones, blood vessels, and fatty and Proteus syndrome got its name from the Greek god Proteus , who would change his shape to elude capture. It’ s also thought that Joseph Merrick, the

a man smiling for the camera: Jerry DeVries is the oldest man known living with Proteus syndrome, a rare and crippling overgrowth disease. He is volunteering in a clinical trial for the first drug to treat the syndrome.© Amanda Morris/The Republic Jerry DeVries is the oldest man known living with Proteus syndrome, a rare and crippling overgrowth disease. He is volunteering in a clinical trial for the first drug to treat the syndrome.

The overgrowths can be crippling, and there is currently no known cure and no proven treatments. Researchers are just now experimenting with the first possible treatment for the disease.

Many suffering from Proteus syndrome 'died way too young'

By age 14, DeVries had endured 10 surgeries, then had to get his right foot amputated so he could walk again. Lately, he suspects that spinal overgrowths are causing a new source of debilitating pain in his lower back, pain so bad he had to retire from his job working as a parts manager in the automotive business.

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Proteus syndrome is a rare disorder with a genetic background that can cause tissue overgrowth involving all three embryonic lineages.

Proteus syndrome is a rare condition characterized by overgrowth of the bones, skin, muscles, fatty Starts off okay, but then you slowly pan down and the poop starts trying to escape your ass out of Well, it is what it is widely thought & most likely he had Proteus but DNA testing of his bones and

But for all the pain and uncertainty, DeVries knows he's lucky. He's made a life for himself in Surprise, working as an automotive parts manager, marrying his wife, Judy, and raising kids.

Many people like DeVries don’t live long enough to do the same. According to a 2017 study, people with Proteus syndrome have a 25% chance of dying by the age of 22.

DeVries is 61.

“A lot of, a fair amount, died way too young, way too young,” he said, reflecting on patients he knew in the Proteus syndrome community. He can rattle off instances of teenagers, children and babies who died.

A first-ever drug for a rare disease

DeVries is the oldest known man alive with the syndrome. He was diagnosed with the disease at 40 and has spent the last two decades volunteering to be poked, prodded and studied so researchers can better understand the syndrome. Now he’s participating in a clinical trial for the first-ever drug to treat the syndrome.

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He ' s the oldest - known man with rare Proteus syndrome and he hopes to help find a cure . The Arizona Republic 28 Jan 2020. At 61, Jerry DeVries is the oldest known man living with a rare , often deadly disease. For the first time, researchers have found a potential cure , and DeVries has

Proteus syndrome causes an overgrowth of skin, bones, muscles, fatty tissues, and blood and Proteus syndrome is a progressive condition wherein children are usually born without any obvious Luckily, it' s extremely rare , and it' s thought between 120-200 people are alive with the condition at

It's called miransertib. It's an oral pill created by a small biomedical company called ArQule and needs to be taken once daily. The company initially tested the drug on three adults and 3 teenagers in a 48-week study in 2015; one of those participants was DeVries.

This initial study showed promising results in the younger patients, according to Brian Schwartz, ArQule’s chief medical officer.

“The rate at which these growths were occurring slowed down, and in some cases, even regressed, and the pain which they had was much less than before they started therapy,” he said.

Still, DeVries thinks the drug is unlikely to help him.

“The results were not real conclusive for those of us that were adults but showed more hope for those that were teens — for those that were still in the growth stages of their life,” DeVries said.

That's not stopping DeVries from continuing to participate in the research. His doctors didn’t even know what Proteus syndrome was when he was a child, so he wasn’t officially diagnosed until he was 40 years old. Once that happened, he found a whole community of others who were affected.

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He was diagnosed with Proteus Syndrome at just three years old - the chances of being born with Brian, from Dover in Delaware, USA, said: "When I was younger, surgeons tried to destroy the Before meeting Angie online, Brian doubted he would ever find love. The older I'm getting the more

Proteus syndrome is a rare condition characterized by overgrowth of the bones, skin, and other tissues. Organs and tissues affected by the disease grow out of proportion to the rest of the body. The overgrowth is usually asymmetric, which means it affects the right and left sides of the body differently.

“I realized that I had a responsibility for those younger people,” he said. “It’s not for me, it’s not about me, it’s for those kids.”

Kim Green, the founder of the Proteus Syndrome Foundation, said DeVries is an important source of hope for children living with Proteus syndrome.   “He makes them not afraid because even though he has Proteus syndrome, he’s older, he seems healthy, he doesn’t complain all the time,” she said.

She knows firsthand how scary the syndrome can be.

When her son Alex was born in 1990, he looked relatively normal, but soon his fingers started growing larger, and his knees overgrew so much that even after removing both kneecaps, he couldn’t straighten his legs and had to use a wheelchair.

“He pretty much developed every syndrome you can get,” she said.

Her son, who she described as a happy, fun and musical kid, died from a pulmonary embolism at the age of 9. At the time, nobody knew that pulmonary embolisms were a common risk for people with the syndrome.

“It’s hard as a mom to lose a child, obviously, and we’re still losing children to this syndrome,” she said, citing examples of children as young as 6 weeks old dying from it.

Green’s hope is to prevent other families from going through similar experiences by reducing the harmful symptoms of the disease or curing the syndrome altogether. Her foundation has been instrumental in connecting patients with studies and providing grants to advance the research.

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Proteus syndrome is a rare disorder characterized by overgrowth of various tissues of the body. Overgrowth associated with Proteus syndrome is irregular, disproportionate, and may affect one side of the body such as only one foot and not the other (asymmetric).

Proteus syndrome is characterized by excessive growth of a part or portion of the body. The overgrowth is usually asymmetric, which means it affects the right and left sides of the body differently. Newborns with Proteus syndrome have few or no signs of the disorder.

a man and a woman sitting on a beach: Kim Green with her son Alex, who suffered from Proteus syndrome, a rare disease that causes crippling overgrowths throughout the body.© Courtesy of Kim Green Kim Green with her son Alex, who suffered from Proteus syndrome, a rare disease that causes crippling overgrowths throughout the body.

Getting a treatment to those who need it

Because the disease is so rare, there isn't much money to be made in selling a cure or treatment, so it can be difficult to entice researchers to study it.

"Commercially it’s not very attractive for a big company, but for us it was something really interesting, exciting and something that we thought would be worthwhile to pursue," Schwartz said.

But to study and develop the drug, ArQule needed to pay for it somehow.

The U.S. government has a number of programs designed to support research into rare diseases that might not otherwise be lucrative. Through one of these programs, the FDA granted a rare pediatric disease designation to miransertib for the treatment of Proteus syndrome. This designation essentially gives the company a priority review voucher that can be sold to another company so they can get faster approval for a separate drug.

The voucher can't be sold until the initial drug — in this case miransertib — gets approved.

a person holding a tattoo: Proteus syndrome patients in ArQule's initial study of a drug to treat the disease experienced a softening of overgrowth lesions on their feet, and in some cases, a reduction in the overgrowths.© Courtesy of ArQule Proteus syndrome patients in ArQule's initial study of a drug to treat the disease experienced a softening of overgrowth lesions on their feet, and in some cases, a reduction in the overgrowths.

"What it does is you can take a drug that doesn't qualify for fast-approval and you can use this voucher to accelerate your approval of the drug. So, for drugs that are used for blood pressure or cholesterol or things like that, an approval 6 months or 1 year earlier is easily worth 100 million dollars," Schwartz said. "And that would basically cover our cost."

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He weighed 19 stone, had size 16 feet and a 40-inch inside leg, as well as suffering sight and Robert, pictured at nine years old , suffered from proteus syndrome , which meant his bones never stopped The syndrome became more widely known when it was determined that Joseph Merrick (the patient

There is no cure for this rare disease, which has been traced back to malfunctions in the ACVR1 gene. The skulls of infants with hydrocephalus often become bulbous to accommodate the extra fluid, but older victims with less flexible skulls suffer a range of other debilitating symptoms.

Though ArQule is a small bioscience company, they also focus on developing precision medicine for more lucrative diseases such as cancer, which has made the company attractive to larger bioscience giants. Merck, a heavyweight bioscience and pharmaceutical company, recently acquired ArQule for approximately $2.7 billion.

In addition to needing funds, Green said research advancements wouldn’t be possible without people like DeVries who are willing to take the risk. In addition to agreeing to multiple biopsies, CT scans, and hours of MRIs, DeVries is taking a drug that isn’t yet fully understood.

'It's just life as a guinea pig'

So far, Schwartz said the drug seems to have few side effects, which could include raising glucose levels. At very high doses, it could be toxic. He acknowledged that the drug hasn’t been tested for long-term use.

“What you don’t want to do is give too much drug so you stop normal growth,” Schwartz said. “So we think we’ve got a balance in the amount of drug we’re giving between controlling these abnormal lesions … but then letting the normal cells still grow.”

Schwartz said he expects that the clinical trial will prove as successful as the initial study and will shrink overgrowth lesions in patients while also giving them a better quality of life.

The clinical trial has already started and is still actively recruiting new participants. If all goes well, the trial is expected to run until June 2021. Researchers will then submit data to the FDA to get fast-track approval for the drug.

“Our hope is that two years from now we could hopefully have the drug on the market,” Schwartz said.

Though she trusts that ArQule’s researchers are being cautious and is excited about the prospects of the drug, Green is still concerned about the drug’s potential to block or stunt growth in children.

“It’s very scary because nobody knows,” she said. “It’s just life as a guinea pig.”

And it’s a life that DeVries has signed up for willingly.


This article originally appeared on Arizona Republic: He's the oldest known man with extremely rare Proteus syndrome. He's trying to find a cure.

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