For patients with so-called “orphan” diseases, finding treatment can be next to impossible, unless they get lucky.

By Nancy Wang

Soon, six-year-old Addison Cox will sleep through the night for the first time in her life.

Addison suffers from a rare genetic disease called cystinosis, whereby an amino acid, cysteine, builds up in cells and damages them. The disorder affects the kidneys the most, and can lead to a loss of nutrients that hinders growth and development. If untreated, cystinosis can lead to early kidney failure.

Addison Cox and her mother, Nicole Cox at an event raising awareness for cystinosis.
Addison Cox and her mother, Nicole Cox at an event raising awareness for cystinosis. Photo by Lars Wanberg

“She’s almost 5, and she’s not sleeping through the night, so she’s still on diapers,” said Nicole Cox, Addison’s mom. “The cost for the tabs for the bed and the laundry adds up.

“It’s definitely a strain, especially with me being a single mom. It’s all very scary.”

Currently, the only drug available to treat cystinosis must be given every six hours, even in the middle of the night. But this Tuesday, the FDA approved a new drug, Procysbi, which only needs to be given every 12 hours. Procysbi is the first new treatment for cystinosis approved by the FDA in 18 years.

Rare diseases not so rare

Cystinosis is a rare disease that affects only 500 people in the U.S., and treatment options are limited. According to the U.S. Rare Disease Act of 2002, a “rare disease” is any medical condition that affects fewer than 200,000 people. Despite the name, approximately 30 million Americans suffer from more than 7,000 rare diseases.

Some are better known than others. Cystic fibrosis affects 30,000 people in the U.S., whereas only two people in the world have been diagnosed with Fields’ disease, a genetic condition that destroys muscles over time.

Many rare-disease patients are initially misdiagnosed or go through dozens of costly tests before doctors learn what’s going on. Then, even if doctors have the correct diagnosis, treatment options are few and hard to come by.

“There’s only one pharmacy that makes [Addison’s] medication, and they’re in a different state, so we have to have it shipped to our house,” Nicole Cox said. “If she has to be hospitalized, which is quite frequent, we have to bring it with us, because [Duke Hospitals] doesn’t have it and can’t even get her medication in time.”

Drugs to treat rare diseases

To motivate pharmaceutical companies to develop treatments for rare diseases, also known as orphan drugs, Congress passed the Orphan Drug Act in 1983. The act gives pharmaceutical companies tax incentives, subsidies and stronger patent rights for any orphan drug. Since the bill passed, more than 300 new drugs targeted at 200 rare diseases have been developed. However, this covers less than 3 percent of the rare diseases.

Julie Anne Smith, executive VP Strategy and chief operational officer at Raptor Pharmaceuticals.
Julie Anne Smith, executive VP Strategy and chief operational officer at Raptor Pharmaceuticals. Photo courtesy Raptor Pharmaceuticals.

“The Orphan Drug Act has been a huge success, but there is still a tremendous unmet medical need,” said Julie Anne Smith, chief operational officer at Raptor Pharmaceutical Corp, based in California. Raptor Pharmaceutical developed the newly approved Procysbi.

“Currently, I think there are about 20-ish private companies focused on rare disease, but there are some important federal initiatives that the NIH has that are helping to continue to spur development and interest.”

One such initiative is the National Center for the Advancing Translational Sciences, or NCATS. The new institute was established in 2012 and has been combined with the Office of Rare Diseases Research. The organization focuses on developing and improving cutting-edge therapies, many of which are directed at rare diseases.

Many of the advisory board members work in the private sector.

“What we’re seeing more and more of now is an increasing level of awareness in the private sector of the potential benefit they can get from investigating rare diseases,” said Michael Knowles, a physician and researcher who specializes in lung diseases at UNC Hospitals. “If you develop a drug for rare disease, you can get rapid FDA approval, and there’s no reason why you can’t take this drug and then test it for uses in more common diseases.”

Greater implications

Knowles heads one of the 10 rare disease research groups that are part of the Rare Diseases Clinical Research Network and receive NIH funding. Knowles, who specializes in rare diseases of the lung, including cystic fibrosis, said that research into rare disease has big implications for medicine.

“People create specific mice models all the time to study disease, but rare diseases are a naturally occurring genetic abnormality that give us insight into how normal [immune] defenses work,” he said. “It turns out that you learn things about rare diseases that are applicable to lots of common diseases, and that’s something that not a lot of people realize.”

For Knowles, the future of treating rare diseases is bright.

“What the cystic fibrosis foundation took 50 years to do, we’ve almost accomplished for primary ciliary dyskinesia [another rare lung disease] in a decade,” he said. “There’s been an incredible acceleration of effort and focus on rare diseases.”

Nicole Cox thinks there’s still a long way to go. But for now, she’s excited her daughter, Addison, can try out a new medication that will enable them both to get a good night’s sleep.

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Rose Hoban is the founder and editor of NC Health News, as well as being the state government reporter. Hoban has been a registered nurse since 1992, but transitioned to journalism after earning degrees...