From no drugs to 3: Patients with spinal muscular atrophy now face hard choices.

Jud Broadhurst was 14 years old when he began to notice the symptoms.

Playing competitive soccer, Broadhurst would fall, seemingly "for no reason," he said. But there was one, lurking in his genes. Broadhurst had a form of spinal muscular atrophy, a rare neuromuscular condition that was causing his muscles to weaken over time.

At the time, no medicines were available to slow the relentless march of Broadhurst's disease. Doctors said he would be in a wheelchair by age 20, a prediction he swore to defy with a lifetime of healthy eating and exercise.

But, three decades later, the outlook for patients with SMA has changed dramatically. Broadhurst, still walking at age 46, has new options and decided earlier this year to receive his first infusion of Biogen's Spinraza.

"I will do anything humanly possible not to end up in a wheelchair," Broadhurst said in an interview.

Since 2016, three drugs have been approved to slow or stop the disease, from the most severe "Type 1" form that typically leads to death by age two to the more mild forms, like Broadhurst's, that can rob people of the ability to walk or swallow.

Each drug is dramatically different. Zolgensma, a gene therapy from Novartis, is a one-time treatment meant to produce long-lasting benefits. Spinraza, an RNA-based medicine, is infused at a clinic a few times a year. And Evrysdi, from Roche, is a daily medicine taken at home. Their arrival has transformed the expectations of patients, their families and the doctors who treat the disease.

"To see kids with SMA type 1 who are walking is just mind-blowing," said Elizabeth Kichula, a pediatric neurologist at Children's Hospital of Philadelphia.

But the availability of three such different drugs has left Kichula, Broadhurst and others in the SMA community with difficult choices, and not enough information to make those decisions. They must consider the cost of each treatment as well as the relative convenience each offers, and do so without knowing which is the most effective. None of them have been tested against another, and the long-term benefits of each are still being studied.

"The tricky part is that there are still a lot of unknowns," said Rebecca Scharf, a pediatric neurologist at the University of Virginia.

Repeated sedation is potentially worrisome in infants and children because of possible long-term effects on developing brains. And younger children in some cases must be taken out of school before their Spinraza infusions to avoid upper respiratory infections that can make it risky to receive general anesthesia.

Older patients on Spinraza who spoke with Biopharma Dive had more modest concerns.

Broadhurst, who flies from his home in Colorado to Phoenix to receive Spinraza treatment, doesn't view the spinal injections as overly burdensome. Twice, he's gotten a dull, aching headache. "The infusion takes five minutes, tops," he said. "Every now and then they'll brush up against a nerve, and it feels like a lightning bolt."

Janelle Fiesta, 24, was diagnosed when she was one year old, and as a result of the condition has had a spinal fusion and a metal rod placed into her back.

Author:JonGardner

Published:https://www.biopharmadive.com/news/spinal-muscular-atrophy-drugs-hard-choices/586393/