- Associated Press - Sunday, January 8, 2017

ORLANDO, Fla. (AP) - Asher Camp was 6 months old when his pediatrician noticed that something wasn’t quite right.

He didn’t have the reflexes a baby his age should have and couldn’t support his head and neck. He wasn’t hitting many of the milestones a 6-month-old is supposed to hit.

His parents, Amanda and Jeremy, of Lakeland, were referred to a neurologist for more tests. And the news wasn’t good. Asher was diagnosed with a relatively rare genetic disorder called spinal muscular atrophy, or SMA. He might not make it to age 2, they were told.

“It remains a difficult discussion when you make a diagnosis of SMA,” said Dr. Richard Finkel, chief of neurology at Nemours Children’s Hospital. “You’re basically giving the parents a death notice and until now you couldn’t offer them a meaningful hope.”

That all changed recently, when the FDA approved the first drug for treatment of spinal muscular atrophy - a drug that Finkel and colleagues have been developing for the past four years in clinical trials involving patients including Asher in Lake Nona.

“Without seeming too cliche, I’d say ‘God bless us, everyone.’ This is truly our Christmas miracle,” Amanda Camp said Dec. 30. “Today is a historical day not just for our SMA community but for anyone who has a baby in the future with SMA. … Today, you can have hope for tomorrow.”

SMA affects about 1 in 10,000 babies but is the most common genetic cause of childhood mortality. A gene mutation causes certain cells in the brain stem and spinal cord to not function effectively and deteriorate prematurely. That, in turn, leads to muscle impairment.

Many children who have its most severe and most common form, Type 1, don’t reach their second birthday. Their weak muscles rob them of the ability to cough effectively. Most die because of pulmonary infection.

“In layman’s terms, the person is missing a gene that produces a protein that keep cells alive. Without it, the muscles atrophy,” explained Jeremy Camp.

Studies by Finkel and colleagues, funded by Ionis Pharmaceuticals and Biogen, have shown that the newly approved drug Spinraza (nusinersen) can improve the children’s motor skills and slow the progression of the disease while being safe and well-tolerated.

Although the long-term effects of Spinraza are still unclear, experts say it’s the first time that patients with SMA might hope for a treatment.

The drug “has all the elements of making us optimistic in a sense because we have nothing for this disease other than palliative care and respiratory support,” said Dr. Livio Pellizzoni, an associate professor at Columbia University whose lab studies SMA at a molecular level. He was not involved in Finkel’s study.

Asher, almost completely immobile at 7 months of age, is now crawling at age 3, can push himself around in a wheelchair and can stand unassisted against the wall. He initially was expected at this age to be motionless, hooked to ventilation support and a feeding tube, if still alive.

The Camps said they decided to enroll him in Finkel’s clinical trial for “the greater good.”

“My six month old baby who(m) I held and feared for his life, both from SMA and the unknowns of this clinical trial, has pioneered this treatment to help make it available to all,” Amanda Camp said after the drug’s approval Friday.

Since identifying the SMA mutation two decades ago, researchers have experimented with different approaches to treating the disorder.

Finkel’s investigational drug contains small pieces of DNA, which target a back-up gene for the main mutated gene. Through a spinal tap, the drug enters the spinal fluid, finds the nerve cells and binds to the back-up genes, boosting their ability to produce a protein that’s missing because of the primary gene’s mutation.

Having a treatment option can also be a catalyst for adding SMA to the newborn screening panel, experts said.

Meanwhile, the drug’s mechanism of action, now proven through studies, might have implications beyond SMA, said Pellizzoni, because it shows for the first time that this type of drug therapy is well-tolerated in the young and fragile population, and it could be used for treatment other disorders.

Spinraza is approved for use across the range of spinal muscular atrophy patients and for all ages, said the FDA. Its most common side effects are upper respiratory infections, lower respiratory infections and constipation.

It’s not clear how much the drug will cost.

Finkel, who is an adviser for Ionis and Biogen pharmaceutical companies and has received payments from them, said the drug could offer an economic trade-off, because kids are less likely to be hospitalized and parents can go back to work.

He also added that Asher’s remarkable improvement is a bit of an outlier. Other children in the study have seen improvements, but to a lesser extent.

“This is not a cure,” he said. “So we tell parents that they still need to consider all the options, including palliative care. We don’t want to give them a sense of hope that they can cure the child.”

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Information from: Orlando Sentinel, https://www.orlandosentinel.com/


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