Finally, it seemed, Sarah Jenssen would have a chance to get a treatment that her family hoped could help her.
A gene therapy for Sarah’s condition, Duchenne muscular dystrophy, won a wide approval from the Food and Drug Administration earlier this year. The authorization encompassed most patients with the degenerative neuromuscular disorder, regardless of their age or whether or not their disease had advanced to the point that they used wheelchairs.
But last month, the Jenssens’ insurer denied Sarah coverage for the therapy, which has a list price of $3.2 million. The insurer said it would only cover the treatment, Sarepta Therapeutics’ Elevidys, for patients who were still able to walk on their own, putting it at odds with the FDA’s label. Though she could still use the bathroom independently and dress herself, Sarah, 15, had started relying on a wheelchair.
“It’s like we got through all the gates, and then it gets to insurance, and it just stops,” Sarah’s mom, Deb Jenssen, told STAT after they received the news.
Last week, though, after Sarah’s medical team appealed the decision, the insurer announced it would cover Elevidys for her. Though there are still a few more boxes to check, Sarah could receive the one-time treatment as soon as November.
Sarah has an exceptional case of Duchenne, a disease that almost entirely afflicts boys. But if her case is unusual, the challenge of getting insurance to cover the Duchenne treatment is not, doctors and advocates say. In that way, Sarah has been caught up in a broader debate that touches on the rigors of FDA standards, stringent decisions by insurers, and an evolution in figuring out whom cutting-edge medicines can help and how to afford their multimillion-dollar price tags — a debate that is sometimes leaving families in the lurch.
“What you’re asking me about is every day that ends in y over here,” Kelly Maynard, who runs Little Hercules Foundation, which helps Duchenne patients access medicines, said about treatment denials.
The issues have become particularly inflamed in this case because of questions about the data underlying Elevidys’ approval.
Elevidys failed to meet its main goal of improving muscle function in its pivotal study, though there were benefits seen on secondary measures. Many FDA officials objected to the approval of the treatment, both when it was initially authorized for younger patients in June 2023 and when that approval was greatly expanded a year later — following a top official’s decision to overrule agency reviewers. And even some experts who back the use of Elevidys in younger patients note there are very limited data on how it works in older patients who use wheelchairs, who are likely at higher risk for side effects.
Defenders of the FDA’s decisions have argued that regulators are embracing flexibility to get treatments to patients with few options. Others have said that by relaxing its standards, the FDA is at risk of opening the floodgates to ineffective treatments — creating false hope for patients, laying the groundwork for fights with insurers, and resulting in many millions of dollars spent on drugs that won’t offer much, if any, help.
As such, many people anticipated that insurers would balk at covering Elevidys as widely as the treatment is approved under its FDA label.
“It’s easy to lay blame on insurers because they seem like the bad guys, but clearly the system is created in such a way to produce these results,” explained Jordan Liebman, a physician and ethicist at New York University who has been tracking access issues with Duchenne treatments.
Instead of covering treatments broadly, insurers are sometimes aligning their policies to fit the enrollment criteria of the clinical trials that led to a drug’s approval, Liebman said. In this case, trials focused on so-called ambulatory patients.
Insurers have also criticized drugmakers for setting such high prices for gene therapies. Drugmakers argue the medicines are cost-effective because they provide years, if not decades, worth of benefits with a single dose.
The FDA has granted Elevidys full approval for all patients age 4 and older who can walk on their own. For patients who rely on wheelchairs, the agency granted accelerated approval, a form of conditional authorization that will have to be backed up with a larger, ongoing study.
If the results are positive, it could ease the access disputes. But drugmakers often take considerable time running confirmatory trials, and Sarepta in particular has faced criticism for dragging out these studies on its earlier line of Duchenne drugs.
Jonathan Soslow, one of Sarah’s doctors and co-director of the Duchenne clinic at Monroe Carell Jr. Children’s Hospital at Vanderbilt, said the clinic has run into insurance problems with other patients, even for some who can still walk if they are on the older side. Insurers sometimes say they still view Elevidys as investigational.
“You spend all this time to get the FDA to approve it, and then you have to spend even more time with insurance companies to get them to approve it,” said Soslow, who has consulted for drugmakers working on Duchenne therapies, including Sarepta.
Soslow acknowledged the debate around Elevidys’ evidence, and the limited data for its use in patients who use wheelchairs. But he added that families see the FDA’s approval of the treatment for those children and think it can help their kids perhaps live longer or hold onto whatever function they still have.
Duchenne is caused by a mutation that disrupts the production of dystrophin, a rope-like protein that protects muscles as they work. It causes muscles to waste away, often leaving children in wheelchairs by the time they become teenagers and killing patients before age 30.
Because the gene behind the disease sits on the X chromosome, it was long thought that girls who inherited the mutation couldn’t develop the disease. Because girls had a healthy copy of the gene on their other X chromosome, the thinking was that it could make enough healthy dystrophin to compensate.
But researchers have come to realize that some girls, simply because of bad luck, have cells that predominantly activate the faulty copy of the gene, meaning that they aren’t producing sufficient dystrophin to safeguard their muscles.
Some women who inherit the mutation — including Deb Jenssen — won’t display any clear signs of Duchenne (though researchers are learning that they can accrue some damage over the years, including in their heart muscles). Some — including one of Sarah’s sisters — will have milder symptoms that progress at a much slower rate. But some girls, like Sarah, follow similar trajectories as boys with the disease. (STAT wrote about the Jenssen family, who live in Madison, Ala., in 2019.)
Clinical trials of Duchenne treatments, including gene therapies, have typically only enrolled boys, so Sarah was never able to participate in one. The Jenssens feared that an FDA approval might also limit Elevidys to boys, but in its announcement, the agency made no such distinction and even noted that Duchenne “in rare cases may affect females.” And indeed, Sarah’s sex has not been the issue with the family’s insurance.
Sarah’s insurance denial, dated Aug. 24, came from Blue Cross Blue Shield of Illinois. The decision said: “This medicine can be approved for those able to walk. The notes indicate that your child uses a wheelchair.” The company’s policy online also says it only covers the treatment for ambulatory patients, saying that its use “in non-ambulatory individuals is considered not medically necessary as a clinical benefit has not been established.”
In this case, Blue Cross Blue Shield was acting only as an administrator for the family’s insurance plan. The Jenssens get their insurance through Sarah’s dad’s employer, Boeing, which is self-insured, meaning it pays for its employees’ health costs itself and uses Blue Cross Blue Shield for administrative work like managing claims and networks. About two-thirds of U.S. workers are employed by self-insured companies, according to KFF. Self-insured employers have broadly been struggling to figure out how to pay for gene therapies while still being able to cover the health costs of other employees.
STAT initially reached out to Boeing and Blue Cross Blue Shield of Illinois after the Jenssens received the denial. After the decision was reversed, John Simley, a BCBS spokesman, said it didn’t comment on individual cases, and wouldn’t answer questions about the discrepancy between the company’s policy and the FDA label for Elevidys.
Connor Greenwood, a Boeing spokesman, said the company declined to comment, and wouldn’t answer questions about whether Boeing set its own policies for treatments like Elevidys or if it adopted the policies its insurance administrator set, which self-insured employers sometimes do.
When Deb Jenssen received the call last week that the rejection had been overturned, she started crying and told the woman on the line she was her favorite person in the world.
If the appeal had not been granted, the Jenssens’ plan was to see if Medicaid, which provides secondary insurance for Sarah, would cover Elevidys. Sarah is eligible for Medicaid because she is disabled.
Maynard, the patient advocate, said some state Medicaid programs have started covering Elevidys, though when it’s a secondary insurer, sometimes the programs argue the primary insurer should pay for at least some portion of the treatment.
Sarah is one of two girls who’ve been authorized to get the gene therapy, according to Sarepta.
Deb Jenssen acknowledged that whatever benefits Elevidys may offer Sarah, it would be more helpful in younger kids, “simply because their muscles haven’t deteriorated that much.”
But she also said she felt that despite using a wheelchair to get around, Sarah can still do a lot for herself. The hope is that Elevidys can halt any further progression for some time, and also, by protecting her heart and lungs, give Sarah the chance of a longer life.
“We feel like we’re at a really critical phase,” Deb said. “Even though she’s in a wheelchair, she can eat, she can use the bathroom by herself, she can get herself dressed in the morning. She’s still a pretty independent person. But I think we’re months away from losing all that.”