FDA Approves $250,000 Orphan Drug To Treat Cystinosis

When asked what her 12th birthday wish was, Natalie Stack opted to write it on a restaurant napkin rather than say it aloud.

The napkin, according to The New York Times, read as follows: “To have my disease go away forever.”

When Stack was born in 1991, her parents were told they would be lucky if their daughter lived to graduate from high school. Her disease, cystinosis, afflicts an estimated 500 people living in the United States, according to the Cystinosis Research Foundation (CRF), and just 2,000 worldwide.

Usually diagnosed within the first year of child’s life, the disease is an inherited error of metabolism in which cystine crystals accumulate in various tissues and organs, according to Raptor Pharmaceutical Corp. If left untreated, the disease is fatal by the first decade of life, with additional complications including muscle wasting, poor growth, difficulty swallowing, diabetes and hypothyroidism.

Stack had made it to 12 by taking the drug Cystagon, produced by the company Mylan Inc. However, besides emitting a strong rotten-egg smell, the drug’s side effects include vomiting, nausea and other abdominal problems. Furthermore, the drug must be taken every six hours – including at night.

Reading the napkin note, Stack’s parents decided it was time to act, to somehow come up with a better option for their daughter. According to The New York Times, the couple formed the CRF, raising almost $400,000 at an initial cocktail party.

Ten years and millions of dollars later, the Food and Drug Administration announced Tuesday its approval of the new medication Procysbi, developed through funding through the CRF. Not only is the drug easier on the stomach than its predecessor, but it produces less of an odor and can be taken every 12 hours.

The catch? While Cystagon costs insurance companies roughly $8,000 a year, Procysbi will cost an average of $250,000 annually, which, makers Raptor Pharmaceutical Corp. said in a press release is the result of high development costs as well as a the value of the drug.

However, as co-founder and chief executive of Raptor told the Times, the drug’s seemingly “subtle advantages” in fact “add up to a significant benefit.” For example, according to Starr, as many as 80 percent of patients skip doses of Cystogon, which studies have shown can lead to more rapid deterioration of the kidneys and other organs.

In all, analyses put together by Bloomberg estimates that sales of the drug could generate as much as $77 million in 2015.

“It does seem extreme to have it that high,” Natalie Stack’s mother Nancy told the Times. “But as a community, our bottom line is getting better treatment for our children. And we know that this will change our kids’ lives.”