Finally, it seemed like Sarah Jenssen would get the chance to get a treatment that her family hoped could help her.
A gene therapy for Sarah’s condition, Duchenne muscular dystrophy, received broad approval from the Food and Drug Administration earlier this year. The authorization covered most patients with the degenerative neuromuscular disease, regardless of their age and whether or not their disease had progressed to the point where they used a wheelchair.
But last month, Jenssens’ insurer denied Sarah coverage for the therapy, which has a list price of $3.2 million. The insurer said the treatment, Sarepta Therapeutics’ Elevidys, would only be reimbursed for patients who could still walk independently, a violation of the FDA’s label. Although she could still go to the bathroom and dress herself independently, Sarah, 15, had become dependent on a wheelchair.
“It’s like we’ve been through all the gates, and then it hits the insurance and it just stops,” Sarah’s mother, Deb Jenssen, told STAT after they received the news.
But last week, after Sarah’s medical team appealed the decision, the insurer announced it would cover Elevidys for her. Although there are still a few boxes to be checked, Sarah could receive the one-off treatment as early as November.
Sarah has an exceptional case of Duchenne, a disease that almost exclusively affects boys. But if her case is unusual, the challenge is getting insurance that covers Duchenne treatment, doctors and lawyers say. In this way, Sarah is embroiled in a broader debate that touches on the strictness of FDA standards, tough decisions by insurers, and an evolution in figuring out who advanced drugs can help and how to pay for their multimillion-dollar price tags. – a debate that sometimes leaves families in the lurch.
“What you’re asking me about is every day that ends in y here,” Kelly Maynard, head of the Little Hercules Foundation, which helps Duchenne patients get medication, said of the treatment denials.
The problems in this case have become particularly acute due to questions about the data underlying Elevidys’ approval.
Elevidys failed to achieve its main aim of improving muscle function in its main study, although benefits were seen in secondary measures. Many FDA officials objected to the treatment’s approval, both when it was initially approved for younger patients in June 2023 and when that approval was significantly expanded a year later — following a top official’s decision to overrule the agency’s reviewers to shove. And even some experts who support the use of Elevidys in younger patients note that there is 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 offer treatments to patients with few options. Others have said that by relaxing its standards, the FDA risks opening the floodgates to ineffective treatments — creating false hope for patients, laying the groundwork for battles with insurers, and spending many millions of dollars to medications that won’t do that. provide much or no help.
As such, many people expected that insurers would fail to cover Elevidys as broadly as the treatment is approved under the FDA label.
“It’s easy to blame insurers because they seem like the bad guys, but the system is clearly designed to produce these results,” explains Jordan Liebman, a physician and ethicist at New York University who has identified access problems . with Duchenne treatments.
Instead of covering treatments broadly, insurers sometimes tailor their policies to the enrollment criteria of the clinical trials that led to a drug’s approval, Liebman said. In this case, the studies focused on so-called outpatients.
Insurers have also criticized drugmakers for charging such high prices for gene therapies. Drugmakers claim the drugs are cost-effective because they provide benefits for years, if not decades, from a single dose.
The FDA has granted Elevidys full approval for all patients aged 4 years and older who can walk independently. For wheelchair-dependent patients, the agency has granted accelerated approval, a form of conditional authorization that must be supported by a larger, ongoing study.
If the results are positive, this could alleviate access disputes. But drugmakers often spend a lot of time conducting confirmatory studies, and Sarepta in particular has been criticized for delaying these studies of 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 encountered insurance issues with other patients, even for some who can still walk in their older years. side. Insurers sometimes say that they still consider Elevidys an investigation.
“You spend all this time getting the FDA to approve it, and then you have to spend even more time with insurance companies to get them to approve it,” says Soslow, who has consulted with drugmakers working on Duchenne therapies. works, including Sarepta.
Soslow acknowledged the debate surrounding the evidence of Elevidys 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 these children and think it could help their children live longer or maintain whatever function they have left.
Duchenne is caused by a mutation that disrupts the production of dystrophin, a rope-like protein that protects the muscles as they work. It causes muscles to waste away, often leaving children in wheelchairs by the time they become teenagers and patients dying before the age of 30.
Because the gene behind the disease is on the X chromosome, it was long thought that girls who inherited the mutation could not get the disease. Because girls had a healthy copy of the gene on their other X chromosome, it was thought they could make enough healthy dystrophin to compensate.
But researchers have come to realize that some girls, simply through bad luck, have cells that mainly activate the faulty copy of the gene, meaning they don’t produce enough dystrophin to protect their muscles.
Some women who inherit the mutation – including Deb Jenssen – will not show obvious signs of Duchenne (although researchers are learning that they may suffer some damage over the years, including in their heart muscle). Some – including one of Sarah’s sisters – will have milder symptoms that worsen much more slowly. But some girls, like Sarah, follow a similar trajectory as boys with the disease. (STAT wrote in 2019 about the Jenssen family, who live in Madison, Alabama.)
Clinical trials of Duchenne treatments, including gene therapies, have typically only enrolled boys, so Sarah was never able to participate. The Jenssens feared that an FDA approval would also limit Elevidys to boys, but in his announcementthe agency made no such distinction and even noted that Duchenne “may affect women in rare cases.” And indeed, Sarah’s sex wasn’t the problem with the family’s insurance.
Sarah’s insurance denial, dated August 24, came from Blue Cross Blue Shield of Illinois. The decision stated: “This drug can be approved for people who can walk. The notes show that your child uses a wheelchair.” The company’s online policy also says it only covers treatment of outpatients, saying its use “in non-ambulatory individuals is considered not medically necessary because no clinical benefit has been established.”
In this case, Blue Cross Blue Shield acted solely as the administrator of the family’s insurance plan. The Jenssens get their insurance through Sarah’s father’s employer, Boeing, which is self-insured, meaning it pays for its employees’ health care costs and uses Blue Cross Blue Shield for administrative work such as managing claims and networks. About two-thirds of American workers work at self-risk companies. according to KFF. Self-insured employers do has had a difficult time by and large to figure out how to pay for gene therapies while still covering the health costs of other workers.
STAT initially contacted Boeing and Blue Cross Blue Shield of Illinois after the Jenssens received the denial. After the decision was reversed, John Simley, a spokesman for BCBS, said it did not comment on individual cases and would not answer questions about the discrepancy between the company’s policy and the FDA label for Elevidys.
Connor Greenwood, a spokesman for Boeing, said the company declined to comment and would not answer questions about whether Boeing established its own policies for treatments like Elevidys or whether it adopted the policies its insurance administrator established, which employers sometimes do this with your own insurance.
When Deb Jenssen got the call last week that the rejection had been reversed, she started crying and told the woman on the other end that she was her favorite person in the world.
If the appeal was not granted, the Jenssens’ plan was to see if Medicaid, which provides secondary insurance for Sarah, would cover Elevidys. Sarah qualifies for Medicaid because she is disabled.
Maynard, the patient advocate, said some state Medicaid programs have started covering Elevidys, but if it is a secondary insurer, the programs sometimes claim that the primary insurer must pay for at least some of the treatment.
According to Sarepta, Sarah is one of two girls who have been given permission to undergo the gene therapy.
Deb Jenssen acknowledged that whatever benefits Elevidys Sarah offers, it would be more useful in younger children, “simply because their muscles haven’t deteriorated as much.”
But she also said she felt that despite using a wheelchair to get around, Sarah could still do a lot for herself. The hope is that Elevidys can halt further progression for some time, and also, by protecting her heart and lungs, give Sarah the chance for a longer life.
“We feel like we’re at a very critical stage,” Deb said. “Even though she is in a wheelchair, she can eat, she can go to the toilet on her own and she can get dressed in the morning. She is still quite an independent person. But I think it will take months before we lose all that.”