FDA considers new muscular dystrophy treatment using gene therapy : Shots

Susan and Chris Finazzo enroll their sons Dylan and Chase in a gene therapy study for Duchenne muscular dystrophy. Experimental treatments are still being studied, but researchers hope they can help prevent the disease’s devastating effects.

Natalia de la Rosa Reyes / Susan Finazzo

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Natalia de la Rosa Reyes / Susan Finazzo

Susan and Chris Finazzo enroll their sons Dylan and Chase in a gene therapy study for Duchenne muscular dystrophy. Experimental treatments are still being studied, but researchers hope they can help prevent the disease’s devastating effects.

Natalia de la Rosa Reyes / Susan Finazzo

When Chase Finazzo was a few years old, his parents found Chase rather clumsy. But they didn’t think it was serious.

“He fell a lot. Not a lot. But he had trouble climbing the playground equipment. He fell down the stairs in kindergarten a few times,” said Susan Finazzo, a 40-year-old mother in Miami. ) says. .

Chase’s younger brother, Dylan, was more agile. But he started walking a little later.

“We don’t think anything of it. He just has a weak ankle. He’s got some tiny little braces for toddlers,” she says. We have the PT, we’re done.”

So Susan and husband Chris Finazzo They were stunned when the doctor told them both boys had Duchenne muscular dystrophyAlthough rare, the disease is the most common hereditary neuromuscular disorder among children.An estimated 10,000-12,000 children are affected in the United States

The disease, which almost exclusively affects boys, destroys muscles. Most boys are wheelchair bound before they reach their teenage years. Eventually, the heart and lungs will fail. Most people with this disease die in their 30s or 40s. it is incurable.

“It’s really devastating,” says Susan Finazzo. “You are going through a mourning process. You are mourning the loss of the life your child should have had.”

Finazzo couldn’t help but wonder about his children: “Will they go to college? Will they live that long? Will they be able to fall in love? Could we have kids? You thought, you were going to soccer practice. And now you’re wondering: How much time am I going to spend with them?”

Finazzo and her husband began giving their sons steroids to help them, but the drugs cause side effects and cannot slow the disease.

Finally, they volunteered Chase, now 8, and Dylan, now 5, to a study testing an gene therapy for Duchenne muscular dystrophy.

Gene therapy works by injecting trillions of harmless viruses that have been genetically engineered to carry genes into the patient’s muscles. This gene produces a miniature version of a protein called dystrophin. This is because boys with muscular dystrophy either lack or don’t have enough.

“I hope this can extend their lifespan a bit. As a Duchenne parent, at the end of the day, I don’t even care about being in a wheelchair. I don’t care not walking,” Finazzo said. “I want them to live longer. I want them to live long enough to enjoy what life is all about. So if this moves the needle on their life expectancy, Even if it’s just for a day, it’s worth it.”

However, there is a heated debate about this. Sarepta TherapeuticsThe Cambridge, Massachusetts company that developed this treatment. Relieves symptoms and prevents disease progression.

The FDA has convened a panel of independent advisors to consider whether to recommend approval on May 12.

Approval is accelerated approvalThis allows the FDA to rapidly approve promising treatments before there is strong evidence that they work.

“We are working with a rare disease that is very serious. It is a deadly disease. Every day matters for these patients,” he said. Douglas Ingram, CEO of Sarepta. “This could be the most important treatment ever developed for children with Duchenne muscular dystrophy. I have.”

However, this expedited approval process is controversial, as some companies do not keep their promises to see if the treatment works.Drugs approved this way to prevent premature birth recently withdrew After finding it useless.

Sarepta’s gene therapy for muscular dystrophy will be the first gene therapy approved through an accelerated approval process.and in the request reportedly It has sparked a heated debate within the FDA.

Sarepta has yet to complete the necessary follow-up studies previously approved through the accelerated approval process for three other dystrophin-focused treatments for muscular dystrophy. Reshma Ramachandran He studies drug approval at Yale Medical School.

So the question of whether microdystrophin levels are an accurate way to assess treatments for the disease remains an open question, she says.

“It’s still unclear whether these very expensive treatments actually provide meaningful clinical benefits, or if we’re just speculating,” says Ramachandran.

“This question has been looming since 2016. Is dystrophin an adequate surrogate for clinical benefit in Duchenne muscular dystrophy? The fact that we don’t get it is a little chilling,” she says.

If found to be ineffective, Ramachandran fears the approval could discourage the development of other treatments that could work, disqualifying patients from receiving them. are doing.

And then there’s the issue of cost.The company has yet to announce expected costs, but other recently approved gene therapies will come at a cost. 3 million dollars to treat each patient.

Expenses that aren’t always covered by insurance can waste money that families could use for much-needed treatments, such as physical therapy and home caregivers, she says.

“It really hurts,” she says.

Doctor Glenn Nachols A doctor from the National Institute of Neurological Disorders and Stroke said he could not comment directly on Sarepta’s request. However, he also expressed reservations about relying on surrogate markers.

“There is certainly data to suggest that initiating dystrophin production leads to tissue regeneration and increased muscle strength. says Knuckles.

But Sarepta CEO Ingram says waiting for more data comes at a cost.

“About 6-800 children die during that waiting period. About 600-800 children are confined to power wheelchairs for the rest of their lives. You can put him on a ventilator,” Ingram says. “All these children will be irreparably damaged.”

The company says it has preliminary data showing that gene therapy is helping patients, and that large-scale studies are already underway to confirm those findings.

The company’s requests are supported by groups such as: Muscular Dystrophy Association.

“Alternative endpoints like dystrophin measurements allow for more access,” said Dr. Barry Byrne From the Association’s Chief Medical Advisor, University of Florida. “By analogy, cholesterol-lowering drugs are expected to improve cardiovascular mortality, a similar analysis.”

“We believe it will slow the progression of the disease and hopefully stabilize these patients,” says lead director Debra Miller. Cure DuchenneThe patient advocacy group that helped fund Sarepta. “We hope that gene therapy will be able to halt the progression of this disease for at least many years.”

Susan Finazzo knows the drug may not help her sons, but she has hope.

“I am very excited to even have the opportunity to participate in this. [study]Because most of the kids can’t do it. So this is a great opportunity,” she says.

Each year on my boys’ birthdays, I am reminded how little time they have to help.

“Birthdays are especially hard because it’s bittersweet,” says Finazzo. You’re so happy, but you also know you’ve been with them for less than a year. “

A digital version of this story was edited by Carmel Wroth. Broadcast edited by Scott Hensley.