Nicole May vividly remembers how an irreversible form of vision loss slowly and relentlessly robbed her mother of the ability to drive and read. Doctors said there was nothing they could do. Then just over two years ago, May was diagnosed with the same devastating condition.
“It was a sick sinking feeling in my stomach,” said May, an 80-year-old Somerville resident who recently stepped down from her role as executive director of Maya Midwifery International due to her declining eyesight. “It’s like you are tied to the railroad tracks and you can’t do anything about it.”
A new drug made by a Waltham biotech company could change that. Last month, federal regulators approved Syfovre, made by Apellis Pharmaceuticals, as the first treatment for an advanced form of macular degeneration that affects about 1 million Americans, including May.
The condition makes it hard for May to see clearly. More than a dozen patches of retinal cells, responsible for sight, are damaged or dying in her left eye, leaving her vision blurry. If left untreated, those patches will continue to spread like a slow-burning forest fire, eventually wiping out her central vision.
Syfovre is designed to quench the damage. In clinical trials, monthly injections of the drug directly into the eye slowed the disease by roughly 20 percent over two years, sparing crucial retinal cells, and potentially giving patients more time to see.
“The rate of slowing is modest, but it’s real,” said Dr. Jeffrey Heier, director of retina research at Ophthalmic Consultants of Boston who led one of the clinical studies of Syfovre. “Patients aren’t going to see visual improvement with this treatment,” he added. “They’re still going to notice vision loss, but hopefully at a much slower rate.”
Earlier this month, May became the first person in Massachusetts, and one of the first in the country, to get the newly approved medicine — administered in Heier’s office in downtown Boston. She knows it’s not a cure but is hopeful nonetheless.
“If I get six more months of being able to read, I’ll take it, and I’m willing to accept some risk for that,” she said.
It’s unclear how many patients will make the same calculus. The treatment increased the risk of developing another form of vision loss called wet macular degeneration, with 12.2 and 6.7 percent of patients who got monthly or every other month injections, respectively, developing the disease, compared with 3.1 percent of those who got a placebo.
Wet macular degeneration is caused by the growth of leaky blood vessels in the eye. When treated early, injections of approved drugs can restore vision. But because Syfovre’s effects are far less dramatic than drugs for wet macular degeneration, some doctors think it may be a harder sell.
“I am not exuberant about it but not against it either,” said Dr. Leo A. Kim, an associate professor of ophthalmology at Harvard Medical School and a retina specialist at Mass Eye and Ear. “I am cautiously optimistic because right now there is no other option.”
Apellis is confident that there will be demand for its drug. With a price tag of $2,190 per vial, monthly injections will add up to more than $26,000 annually, and analysts anticipate that treating even a fraction of eligible patients could eventually generate billions in annual sales.
It was a long and rocky road spanning more than two decades for Apellis to reach this point. The company’s predecessor sold the still-experimental drug to an eye care firm in 2009 before Apellis bought it back in 2014. Through it all, chief executive Dr. Cedric Francois championed a hypothesis that drugs blocking a particular immune reaction called the complement cascade could treat macular degeneration.
Multiple human genome studies published in 2005 linked so-called complement proteins in the immune system to the disease. These abundant proteins randomly stick to cells throughout the body. When we’re healthy, cells easily sweep them away. But sick, infected, or old cells can have a hard time tidying up, and the proteins rapidly accumulate in a process that Francois likens to “Gremlins on the cell surface.”
When that happens, white blood cells swoop in and gobble up the overrun cells. While that’s helpful for clearing infections, it’s devastating for aging retinal cells. Syfovre slows vision loss by blocking the central protein in the complement cascade. “It brings the Gremlins under control,” Francois said.
In the company’s first study, monthly injections slowed the growth of dead patches of retinal cells in the eye by 29 percent over one year. But confirming those results in two subsequent studies has proven trickier than Apellis expected.
Monthly injections slowed the disease by 22 percent over a year in one study and by a statistically insignificant 12 percent in another study, each with about 600 people. Apellis blamed the inconsistent results on bad luck. Patients in the unsuccessful study were progressing in their disease faster than average, especially early in the trial, their statisticians said.
When Apellis continued testing the drug in both studies for another year, monthly injections slowed the disease by an average of 19 percent in one study and 22 percent in the other. Those numbers dropped a bit when the drug was given every two months.
That data helped the company win approval from the Food and Drug Administration in February. But the drug failed to improve scores on vision tests, and the modest results and safety concerns have left some eye doctors wondering how meaningful the drug will be for patients.
“The disease is so slowly progressing that really you want a long-term study,” such as five or more years, Kim said. He isn’t sure whether he will offer the drug to patients yet. And although he wishes it was more effective, he said many factors probably contribute to the disease besides complement proteins.
Other biotech firms are working on targeting other aspects of the disease, or different complement proteins, including a drug that’s up for FDA review later this year made by New Jersey-based Iveric Bio.
Apellis emphasizes that Syfovre’s effects increased throughout the study. In the final six months, monthly injections slowed the disease by an average of 30 percent. Francois said this rising effect is “the most important feature” of the drug. “The longer you use it, the better this drug works.”
That assertion hasn’t been proven beyond two years yet, but the hope that the disease will decelerate further, and possibly even come to a halt, is motivating some patients and their doctors.
“Any time I have useful vision is for me a win,” May said. “And we may find that someone who starts it earlier, it may stop the process.”
That hope was palpable when May leaned back, gripping the armrests of her chair, as she awaited her first injection of the drug in Heier’s office.
Heier held May’s left eye open with the tongs of a metal speculum, gave her antiseptic and numbing eye drops, and then pressed on her eye with a Q-tip for 30 seconds to decompress it before deftly injecting the drug. It was over in a blink.
“Ms. May, you did great,” Heier said while clasping her hands.
“I’m so thrilled about this,” May said, fighting back a tear.
Ryan Cross can be reached at email@example.com. Follow him on Twitter @RLCscienceboss.