A group of determined parents have raised millions through golf tournaments and cocktail parties to support research fighting cystinosis, a rare, fatal childhood disease. Procysbi, approved in 2013, is a drug which is by far the best yet at combating the disease, beating the others which had debilitating side effects. However, the families' elation dimmed when Raptor Pharmaceutical acquired the marketing rights, pricing the drug at more than $300,000 a year for some patients.
"When I heard the number, I was like, holy...that's incredible! The first first thought was, how do we pay for it and get this approved through insurance?"
Kevin Partington, Father of twins with Cystinosis
Manufacturers selling precious, lifesaving medicines and patients share an uneasy alliance. They have clashing priorities yet still need each other when it comes to drugs treating rare diseases like cystinosis.
While families are deeply grateful for drugs like Procysbi and Raptor which performed clinical trials they also feel they are being used. What began as a desperate search for life-extending medicine, cystinosis parents say, has become a story of corporations profiteering off their children. What's more is that they say Raptor have breached sensitive boundaries around their tightknit community to increase sales.
“I feel like it’s all about the bottom line. I don’t think any of us thought they could do this and get away with it.”
Denice Flerchinger, who has a daughter with cystinosis and helped raised some of the first research funds for the drug.
Procysbi, legally speaking is an "orphan drug" titled by FDA rules. This gives its makers an extended monopoly and the opportunity for big profits because it treats a disease affecting only about 500 Americans. Its price has rised five times in the last five years, first by Raptor and then through its now current owner, Horizon. For some, these regulations and decisions by the pharmaceutical companies leave the families with a cost of $1 million annually.
Matt Flesch stated Procysbi's high cost needed to finance research for a range of medicines. Horizon bought Raptor in 2016 and raised the drug's price 21% since then.
“If rare diseases don’t have a higher price, then companies aren’t going to bring new medicines forward. Horizon's average annual revenue per patient is $486,000. No patient needing Procysbi lacks it, due to a Horizon program that covers deductibles and copays or the entire cost if insurance is lacking.”
Cystinosis keeps children from processing protein called cystine, weakening organs and tissues. Without treament the patients can go blind and develop end-stage renal disease. This treatment can be brutal, before Procysbi the only medicine prolonging life tasted life sulfer, induce vomiting and had to be taken every six hours. Nancy Stack's daughter Natalie made a wish for her her disease to go away forever on her 12th birthday.
"You were handed a pamphlet, ‘When Your Child Has a Terminal Illness,’ dot, dot, dot. It never sat well with us. But when our own daughter at 12 understood that if there was no cure it meant she was doing to die, then we realized, wow, this is a big life event for us.”
Nancy Stack, mother of Natalie with Cystinosis
Stack has now raised enough money for research and founded the nonprofit Cystinosis Research Foundation. Over the last few years they've begun building a network of familires who were coping with the illness. According to Nancy, the family’s insurer now pays $73,000 for a month’s supply.
“It was so encouraging to see this community doing all these amazing things. It was really empowering for our family.”
Nicole Manz, CRF Doctor
CRF's was ultimate goal was for a cure. Scientists at the University of California-San Diego, a longtime center of cystinosis research, theorized that a time-release coating on the medicine could reduce side effects and the need for frequent doses. Multiple grant totaling $1.6 million found their hypothesis is correct. The foundation are now looking for a corporate partner to finance more trials to try and gain FDA approval, you can donate here. Raptor, a company with about a dozen employees and no revenue, had acquired the rights to what would become Procysbi in 2007 and agreed to finance clinical trials to get it to market.
“We’re kind of coming in at the eleventh hour” in developing Procysbi, Raptor’s then-CEO, Christopher Starr, told the San Francisco Business Times in 2012, shortly before the drug’s launch. The research and development of this came to about $80 million financial statements have shown. Most of that went to Procysbi, however, some was spent investigation other drugs. Families knew it would be expensive for such an unusual rare-disease drug due its small market. Cystagon, the older, non-coated version of the medicine, cost about $9,000 a year at the time.
But nothing prepared those families for what happened. The $300,000 launch price was so high that Raptor CEO Starr objected, said Dr. Patrice Rioux, who was the company’s chief medical officer and also opposed the pricing.
"Starr was a scientist who wanted to provide the drug at a relatively good price. The board was not of this opinion and overruled him."
Dr. Patrice Rioux, Raptor Chief Medical Officer
Starr did not respond to requests for an interview. In 2014, a year after Procysbi’s approval, the company announced his resignation as CEO, although he stayed on Raptor’s board. Rioux said he resigned at the same time.
“I feel awful about all this and personally accountable. It is so disheartening — the community will suffer from the high cost of Procysbi.”
Nancy Stack, mother of Natalie with Cystinosis
In conversations with Horizon, Stack refers to this hands-on approach as “overreach.” But she said also stated she lies awake at night worried that her outspoken criticism could cut off access to her daughter’s life-sustaining drug. Horizon could stop manufacturing it.
“I think that’s the risk of doing all this. Speaking out so forcefully about the drug price. What if they say this is really a pain so we’re just going to drop this drug? I would never forgive myself, because we discovered”