In Quest to Cure Rare Diseases, Some Get Left Out
November 16, 1999 New York Times
By DENISE GRADY
If there was a defining moment, a single event that foretold the sadness to come, Eric Godek's parents do not mention it. Looking back, they say only that he was 4 months old when they began to notice things that worried them. He seemed to have lost the ability to lift his head and reach for his toys, and he had begun to choke on feedings.
At first, their pediatrician in Peoria reassured them that Eric, a bright, lively baby with huge brown eyes, seemed healthy. Jessica and David Godek, new parents in their 20s, were eager to believe him.
"But I think in my heart I knew something was wrong," Mrs. Godek said.
On Aug. 10, just after Eric turned 5 months old, the Godeks learned that he was suffering from a rare muscle disorder, Pompe disease, and that he had just two or three months left to live.
Desperate to save him, they found one speck of hope: researchers at Duke University Medical Center, in Durham, N.C., were testing a highly promising experimental treatment in which infants like Eric were given an essential enzyme that they lacked. The Godeks contacted the university, and were encouraged to send Eric's medical records. He had exactly the form of the disease being studied.
But soon after the hope was offered, it was taken away. They were told that although the research team wanted to treat their son, it would not be possible, because the study was designed to include only three babies, and the company sponsoring the research, Synpac Inc., of the nearby Research Triangle Park had provided enough medicine for only three. There was not enough for a fourth baby, even though the first three had been promised a lifetime supply if the drug worked. And Eric Godek would have been the fourth.
Pompe (pronounced pom-PAY) disease is an "orphan" disease, one of about 5,000 disorders so uncommon that drug companies used to ignore them, assuming there would be too few customers to make it pay to develop treatments. Many of the disorders are severe or fatal, and in 1983, hoping to encourage research, the government began offering tax credits, research grants and other incentives to companies working to treat rare diseases.
The incentives, provided under the Orphan Drug Act, worked. In the decade before it was passed, fewer than 10 orphan drugs came to market. But since the act, 193 have been approved, nearly half of them in the last five years. In large part because of the government incentives, several so-called orphan drugs now make their manufacturers more than $1 billion a year.
"The act has been one of the most successful laws ever passed by Congress," said Dr. Marlene Haffner, director of the office of orphan products development at the Food and Drug Administration. "It's just been gangbusters."
But in the tide of investment capital, start-up companies, new drug applications, competition for marketing rights and confidential business deals, it is possible for a child to be lost. Companies competing to be first to market an orphan drug need to move quickly, and they have no more incentive than any other drug company to spend the time or money to enlarge a study.
And Mrs. Godek found that a drug development strategy meant to benefit patients like their son had no provision to help him in a crisis. It rewarded manufacturers for creating new drugs, but not for making experimental treatments available to sick people with no other options.
Eric Godek died on Sept. 28, and his parents were left with piercing questions about whether his death might have been avoided.
About 20 million Americans have orphan diseases: rare disorders, each one affecting fewer than 200,000 people. They include familiar illnesses like sickle cell anemia and cystic fibrosis, but also many others like Pompe disease that few have heard of.
Most of the work on orphan drugs is done by small- to medium-sized biotechnology companies created to develop new products. Some have been started by researchers who struck out on their own, backed by investors, to commercialize discoveries made in university laboratories.
Under the Orphan Drug Act, these companies can get waivers of FDA filing fees, worth $300,000 per drug, in addition to grants and tax credits. Especially important, a company that is first to receive FDA approval for a particular orphan drug also gets exclusive marketing rights to it for seven years.
Companies then set their own prices; even though money from taxpayers may have supported the development of an orphan drug, the FDA does not regulate the pricing of the final products.
Many orphan drugs cannot be patented, Dr. Haffner said, either because they are natural substances or because they are old products whose original patents have run out by the time a new use is found for them. "That's why exclusivity has been so important," she said. "It is stronger than a patent, because FDA will monitor it." In the case of new drugs that can be patented, the exclusive rights can come into effect before a patent does.
Abbey Meyers, president of the National Organization for Rare Disorders, in New Fairfield, Conn., said, "The biotechnology industry was built on the Orphan Drug Act. These companies realize that if they make drugs for diabetes and high blood pressure, they can take a tiny piece of a big market with a lot of competition. But if they go into a rare disease, there's no competition. They can charge anything they want."
As a result, orphan drugs are among the biotechnology industry's biggest moneymakers. One, a replacement enzyme, like the treatment being studied for Pompe disease, costs $170,000 to $340,000 a year