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Orphan Diseases Look For Parents With A Cure


Pharmaceutical companies won't have a lot of customers if they create drugs for rare diseases. But medical science has found some answers to that dilemma.

— Morgan Fischer is a blond five-year-old who has hypophosphatasia (HPP). She sits in a small room with her mom, who talks about the genetic disease that affects one in 100,000 people. HPP is rare and very deadly. It softens and weakens the bones due to a missing enzyme. Some people call it a genetic version of Rickets.

Morgan walks with a sway in her gait. She's lost her teeth and her parents are in constant fear of broken bones. But there’s good news. First, Morgan has survived. Second, a company called Enobia Pharma has created a drug to treat HPP, and it seems to work.

"Morgan has had five doses as of today. And her gait is changing, her stamina is changing, her appetite is changing," said Morgan’s mom, Catherine. “I don’t even want to, like, ‘go there.’ But within five doses we are seeing differences.”

HPP is a rare disease, otherwise known as an "orphan disease." The orphan moniker suggests a disease that's neglected. But researchers and pharmaceutical companies have adopted some of these orphans. The process relies on pure science researchers like Jose Luis Millan, of the Sanford Burnham Institute in La Jolla.

Recently he began working with Enobia scientists in Cambridge, Massachusetts who had developed an enzyme replacement drug. Millan tested it in his lab, on mice with HPP, and the tests succeeded.

"Fortunately we had a disease model that perfectly mimicked the human condition in need of treatment,” said Millan. “So we've found a way of fixing the problem in humans as well.”

Why is this important?

“Well, there are kids that would have died without this treatment and now they are alive," said Millan.

Serendipity is the magic that can come from pure scientific lab work. So says Hud Freeze, also a researcher at Sanford Burnham. He happened upon a cure for a rare case of a kid with low blood sugar who was dying.

"The little boy was in the emergency room. He had lost 40 units of blood. He was on his way out," he said.

Freeze said he had been studying a series of disorders called glycosylation. He'd written about how cells, in the lab, responded well to an infusion of a simple sugar called mannose.

"And literally it was two days after we finished those studies that this doc called us and said 'This kid's going to die. We'll do anything. Do you know how much mannose to give and what the effects might be.' And... I didn't hear anything for about three months but then they said, the kid's fine," said Freeze.

It's great to get lucky. But typically the development and testing of a drug is a long and expensive process, costing tens or sometimes hundreds of millions of dollars. Julie Ann Smith is the chief commercial officer for Enobia Pharma, which developed the promising drug for HPP. She said orphan drug companies face a shortage of customers.

"The cost of developing the therapy, and the cost of funding as a stable company, is divided over a small number of patients," said Smith.

But Steve Aselage, chief business officer with Biomarin in Northern California, said there are some advantages for his market niche. Biomarin has developed four drugs for rare diseases.

Aselage said you don't have to spend big bucks on marketing to get medication to patients because there are usually just a few treating physicians, at a few clinics, for any rare disease. Drug trials are also fairly cheap. If you're developing a disease that 1,000 people suffer from, you can't be expected to test many thousands of patients.

Orphan disease drugs are expensive for patients. Biomarin's therapies cost between $41,000 and $400,000. But Aselage argued their cost to a health care system is still low because so few patients need the drugs.

Hud Freeze said the economics of creating cures are a challenge. But the basic science will continue to plumb the depths of rare diseases, and sometime researchers will learn how to save lives.

"The idea that we could figure out the genetic cause of a disease or that we could somehow impact that…for a basic science lab rat, you know, that's a thrill," said Freeze.

The National Institutes of Health estimate orphan diseases, added together, afflict up to 7 percent of the population.


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