Exton biotech testing gene therapy for devastating skin disorder

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Exton biotech testing gene therapy for devastating skin disorder. Monica Malpass reports during Action News at 5 p.m. on April 20, 2018. (WPVI)

FDA OK's first tests with children afflicted with RDEB
A Chester County biotech firm now has the FDA's OK to begin pediatric tests on its breakthrough drug.

It could ease suffering for thousands with a devastating skin disorder known as RDEB.

"As soon as he was born, they knew something was wrong, remembers Teri Valvano.

From the beginning, her son Vinnie showed the signs of RDEB, Recessive Dystrophic Epidermolysis Bullosa.

The disorder is caused by a genetic mutation in a protein which holds the layers of our skin together.

"The layers of skin just lay on top of one another - you get just a little bit of lateral friction, you create blisters," explains John Maslowski, president and C.E.O. of Fibrocell Science of Exton, Pa.

The blisters are slow to heal but get infected easily.

The hands and feet are prime spots for blisters, but they can appear almost anywhere.

"Blisters in his mouth, couldn't drink from a bottle - horrid stuff," says Teri.

And there was a lot of misunderstanding about RDEB, even in the medical community.

"I remember taking him to an emergency room back home, and they thought we were abusing him," says Teri, holding back her emotions.

"We couldn't convince them what was happening," she adds.

During Vinnie's childhood, his family waged a constant battle to keep him infection-free: encouraging existing wounds to heal, and trying to prevent new ones.

"We put knee pads on him and elbow pads, and gloves on his hands when he was little, with bandages under them, and 2 pair of socks over his bandages," she recounts.

Now 30, Vinnie's had several hand surgeries for scarring and other complications that progress from the childhood blistering.

Many RDEB sufferers never make it to adulthood, falling victim to infections.

The constant care didn't deter Vinnie's adventurous nature.

"My parents got me a go-cart, and I loved that go-cart," Vinnie says with a broad smile.

Vinnie still indulges his "need for speed" with a Shelby GT race car he & his brother own.

In 2016, he had the chance to attend Ford Performance Racing School, which he called," The best day of my life!"

Right now, there are no FDA-approved drugs for RDEB.

But at FibroCell, scientists have developed a drug, with the project name FCX-007, aimed at reducing the blister problem.

FCX-007 contains a synthetic gene that creates the correct protein.

"We sort of inject around the periphery of the wound, and we may cross the wound as well," says Maslowski.

It is designed to correct the gene at the wound site, without spreading to other areas of the body.

The first phase of tests showed the drug is safe.

Now in phase 2, The FDA has just given the OK to test it with kids.

"It would make a world of difference if they get treatment younger," he says.

For more information on Fibrocell, click here.

For more information on RDEB, click here.
Related Topics:
healthhealthcheckskin disorderchildren's healthbiotechnology
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