“Our Son’s Fate”: Parents Fighting for Kids’ Spine Drug Eye New Data

Xconomy Boston — 

Melissa Marotta pulled no punches to get her three-year-old son C.J., who has the genetic disease spinal muscular atrophy, access to nusinersen (Spinraza), the first approved drug for his condition. For months, she couldn’t schedule a treatment date at Columbia University Medical Center/New York-Presbyterian Morgan Stanley Children’s Hospital, and for much of that time, she didn’t know why.

She wrote every day to the hospital board until a breakthrough came. C.J. (pictured) received his first dose in early April.

“I reminded them that our son’s fate was in their hands and that I held them fully responsible for the decline in his health,” she says. “While I’m thrilled that they figured it out, it took way too long.”

C.J. has Type 3 SMA. He could walk normally until about 14 months old, when he started to fall frequently. He used to stand up by himself, using his hands to push off his thighs, but now he has to grab something to stay up. In the photo above—taken to show his fight against the disease—he could only stand for a few seconds without falling, according to his mother. “He’s a little bit weaker,” Marotta says.

C.J. was easily cleared by insurer UnitedHealthCare months ago but didn’t receive treatment until April 7. Columbia’s eventual explanation, said Marotta, was that stocking the drug was complicated by its high price.

Xconomy made several requests to Columbia but no one would comment by press time. New York-Presbyterian didn’t respond to requests for comment.

Marotta is one of many parents who have been at wit’s end about the delays and difficulties accessing nusinersen, from Cambridge, MA-based Biogen (NASDAQ: BIIB), which the FDA approved in December. For a small child with SMA, getting nusinersen—which may slow the disease’s progression—could mean more time being able to sit up, stand, or walk. The disease robs people of their ability to function independently, and, in the most severe types, usually kills the children who have it before the age of two. “The sooner you get [nusinersen] the better,” says Jahannaz Dastgir, a pediatric neurologist at Goryeb Children’s Hospital in Morristown, NJ.

That’s why the SMA community of patients, their parents, other caregivers, and doctors—not to mention insurers—will be watching closely next week when Biogen presents new clinical data for nusinersen at the American Academy of Neurology’s annual meeting in Boston.

The data, from a study called CHERISH, could help make nusinersen more widely available. Though the FDA approved nusinersen for all children and adults with SMA, broad approval hasn’t equaled broad access. That’s because when the FDA made its decision, the most extensive, published data available on nusinersen was from trials of Type 1 SMA patients. Full data from CHERISH, a study of patients with Type 2 SMA, wasn’t available yet. Without such data, insurers have had wiggle room to write policies restricting access. Some insurers, such as Anthem, have indicated they could update their policies when they see more data. Biogen will present at least some of that data—the full results of the CHERISH study—at AAN.

Much of the difficulty stems from the high price. Nusinersen is a chronic therapy with a list price of $750,000 for the first year, and $375,000 each year after that, and insurers have balked. But it’s more complicated than that.

“There are still so many people struggling to get this drug.” says Marotta. “We had to claw our way to get there.”

SMA affects anywhere from 10,000 to 25,000 people in the U.S., according to the nonprofit SMA Foundation. It varies in severity among the five forms, Type 0 through 4.

Type 0 patients show disease symptoms in utero, and like Type 1 patients, diagnosed as infants, often die at an early age. Type 2 progresses more slowly, though patients might never be able to walk. Type 3 patients can walk initially before losing strength later in life. Many SMA patients of all types have trouble breathing, sucking, and swallowing because of muscle weakness; the more severe cases are vulnerable to dangerous respiratory complications, like lung infections.

Some insurance policies favor one SMA type over another or require annual or bi-annual checkups to prove nusinersen is benefiting patients, which means patients have to re-apply for authorization every year. “Each patient is still an individual case,” says Stanford University neuromuscular neurologist Charles Cho.

Some insurers haven’t issued a policy at all; patients with that coverage must simply wait. Other insurers have initially denied coverage, and clinicians must battle through one appeal after another before getting clearance. Two similar patients with different insurers might have vastly different experiences.

“It’s been really hard to navigate,” says Dastgir, an investigator in several nusinersen trials.

It’s not clear at this point how many patients across the country have access to nusinersen. In March, Leerink Partners analyst Geoffrey Porges found “very few” SMA clinics that had actually treated patients. He warned Biogen investors to expect just $5 million to $10 million in nusinersen revenues this quarter. Biogen CEO Michel Vounatsos said in January that with reimbursement challenges and capacity constraints at treatment centers, the company expected a “gradual uptake” of the drug in 2017. Biogen will provide more details next week when it discloses quarterly results, according to spokesman Matt Fearer.

In recent interviews with Xconomy, two major treatment centers and one smaller clinic say a minority of their patients have begun treatment.

In New Jersey, Dastgir says Goryeb Children’s Hospital has treated four SMA patients with nusinersen; another dozen or so are waiting because of insurance issues.

John Brandsema, the director of the neuromuscular clinic at the Children’s Hospital of Philadelphia, says CHOP has only treated between 10 and 20 SMA patients—many others are trying to get cleared by insurers. The hospital has identified nearly 70 patients interested in getting therapy.

At Stanford, Cho says fewer than 10 of the roughly 100 SMA patients are on nusinersen. Another two dozen are awaiting payer approvals. Cho says he is encouraged by that number, arguing the uptake of drugs like nusinersen for rare disorders is a slow build. “We’ve assessed it, overall, as going pretty well,” Cho says.

Beyond insurers balking at high prices, patients and clinicians interviewed by Xconomy cite a raft of other holdups, too.

“This is the most logistically challenging medicine I’ve ever encountered,” according to Brandsema, who says he has heard the same from many of his colleagues.

Nusinersen requires an injection into a patient’s spinal canal once every few months, and the patient could require anesthesia and an overnight stay, depending on his or her condition. Brandsema says before CHOP began with nusinersen treatments, it had to figure out which patients to treat first and coordinate different hospital groups—pulmonologists, neurologists, and radiologists—to make sure the procedure was safe and efficient.

CHOP also has had to ensure it could supply the drug without risking the loss of hundreds of thousands of dollars if insurers refused to reimburse for it.

These problems all came amidst a crush of patients clamoring for access immediately.

Amy Concilio was eventually successful getting her two-year-old daughter Claire, a type 2 SMA patient, treated at CHOP. “But the fight for it was ridiculous,” she says.

Unaware of the logistical challenges, Concilio called daily, wasn’t hearing back, and eventually fired off an angry e-mail to the hospital. She eventually connected with a clinician but couldn’t get an estimate of when Claire would receive nusinersen.

She began reaching out to other centers, including Children’s National Medical Center in Washington, DC, which she called “every 30 minutes for three days.” She barged in without an appointment, bringing cookies to compensate for the hassle, and got Claire on the nusinersen list. CHOP called soon thereafter, however, and Claire received her first injection there in February.

Concilio says she now devotes hours each day answering questions from other SMA families worried about making too much of a fuss. “There’s a lot of people who are like, ‘I don’t want them to hate me,’” Concilio says. “And I’m like, ‘That’s really sweet. Your kid might not get treated any time soon.’”

Not everyone has a story of frustration to tell. When Beth Kingkiner’s 18-year-old son Griffen, a Type 3 SMA patient, was 11 years old, he had an opportunity to participate in the first human trials of nusinersen. He decided not to, wary of the risk of a new, untested drug. Kingkiner says they eventually learned that patients in that trial weren’t just tolerating nusinersen but in some cases regaining physical abilities. Griffen is now in a wheelchair. “But he doesn’t regret it,” Kingkiner says. “He even wrote his college essay about it.”

The experience gave Kingkiner a crucial network of contacts. Once nusinersen was approved, she called all the SMA doctors she knew, including the neurologist who had suggested Griffen join the trial years ago. The neurologist recommended Dastgir, who had given multiple nusinersen injections as a trial investigator at Columbia.

Dastgir says she hasn’t faced the same logistical problems as some other clinics. Her familiarity with the drug, the procedure, and who to call helped her get things up and running quickly at Goryeb, in Morristown, NJ. Kingkiner called Dastgir in January, and Griffen was cleared by insurance and treated in February. “We were so lucky,” Kingkiner says.

Lucky indeed: Dastgir says since then insurers have been slower to reimburse, setting more limitations, and changing their policies. Yet she’s hesitant to point fingers. “I think the problem is that this is brand new for everybody, even the insurance companies,” she says.

Meanwhile, Stanford’s Cho blames the payer pushback on the drug’s high price. “For obvious reasons, higher priced drugs face more resistance,” he says. That’s important to note, because patient advocacy groups for rare diseases—which have gained power and sophistication—often take drug industry funding. Critics say that makes them less likely to push back on drug prices and, at minimum, creates the appearance of conflict of interest: The groups desperately want the therapies. Will they speak out against the industry developing them? (Xconomy delved into that issue, and its impact on the SMA community, here.)

Better data next week won’t necessarily change nusinersen’s high list price. But they could convince some insurers the high price is worth paying for more patients.

“A lot of the carriers when they were first setting their policies were going by what was publicly available,” Brandsema says. “So I think that that [data] is going to impact things.”

Even with good data from CHERISH, however, Dastgir still foresees “growing pains” for a new, unfamiliar therapy. Access will only open up because patients fight for it. “This is a very active patient population,” she says. “I’m sure whatever kid is out there, their insurance company is already hearing a lot about it.”