Some genetic diseases strike with extreme rarity but devastating effects. MPS VII afflicts only about 200 people worldwide in countries that report it, most of them children.
MPS VII (mucopolysaccharidosis type 7) causes skeletal abnormalities, typically short stature, along with heart-valve flaws, enlarged liver and spleen, and lung infections. In mild cases, an MPS VII patient can live to age 19 or 20 with delayed development and intellectual disability. A genetic flaw causes deficiency of an enzyme critical to breakdown of certain complex carbohydrates, which then accumulate and cause damage in tissues and organs.
Poppy, age 4, has MPS VII. She has a chance for a more normal life.
In November, the Food and Drug Administration approved an enzyme-replacement therapy called Mepsevii — the first ever — for Poppy and others who suffer from the condition. The infusions cost plenty, net revenue of $375,000 per patient per year for a child who weighs about 55 pounds. The cost is proportional to weight.
The treatment was developed by Novato-based Ultragenyx, which employs about 500. Poppy recently started taking Mepsevii. There is no data yet that shows improvement in lifespan on the enzymes.
Mepsevii marks a turning point not just for Poppy and others with ultra-rare MPS VII, but for Ultragenyx, a biotech company launched in 2010 that raised nearly $1 billion to fund its operations, including a stock sale in January that brought some $280 million. Mepsevii is the first product Ultragenyx is allowed to sell in the United States.
“We had a little bit of revenue from it in Europe,” said Emil Kakkis, founder, CEO and president of Ultragenyx. “Approval of Mepsevii is a pivotal moment for Ultragenyx,” he said, noting the “promise that the science … actually becomes something available for patients.”
For nearly eight years, Kakkis knew a patient in New York with MPS VII, according to Shalini Sharp, the company’s chief financial officer. “He was waiting for someone to pick this up and develop it,” she said. “By the time we were working on it, he was in respiratory failure. Our regulatory team was able to assist his physician in getting an emergency” investigational new drug application filing “so he could get treated before we started treating patients in clinical trials,” Sharp said. “He is still alive” and about age 16.
Scientists were pivotal in “letting this boy get treated,” she said, “and giving him more of a chance than he had. That’s the goal — to save their lives or improve their lives. It’s nice to come to work every day knowing that that’s what everybody is pulling for.”
In the U.S., there are roughly 40 people with MPS VII, Kakkis said. If an average patient weighs 55 pounds, Ultragenyx could derive $15 million in revenue in this country, and have a worldwide potential market of about $75 million.
“It’s not going to dramatically change things for us,” Kakkis said, in terms of revenue. “We have patients who were very sick and have gotten better,” he said. “It is definitely improving their quality of life. Each patient is very different in terms of their physical problems.”
Children with MPS VII who can walk may walk better on Mepsevii. Those “with terrible breathing problems breathe better,” Kakkis said.
Ultragenyx has made huge progress on treatments for two other diseases.