NEW YORK, May 24 (Reuters) - When Malachi Anderson was diagnosed with a rare and often deadly disease called spinal muscular atrophy (SMA) as an infant nearly four years ago, his parents Tina and Torence had a decision to make.
In years past, many of the babies born with the most severe form of SMA, like Malachi, died before their second birthday. Those who survived longer would likely not walk, eat or breathe on their own.
By 2015, drugmakers were testing two experimental therapies in clinical trials: a one-time gene therapy treatment that is now owned by Novartis AG and Spinraza, a Biogen Inc drug which is given through spinal infusion every four months, indefinitely.
On Friday, U.S. regulators approved the gene therapy, called Zolgensma, for children under age 2 with all types of the disease. The company set the price at $2.125 million, the highest price yet for a new medicine, saying that it was comparable over a five-year period to the cost of Spinraza, already approved in late 2016. After Malachi missed development milestones and was diagnosed, the Andersons researched possible treatments online, the couple said in an interview arranged by Novartis. They were connected to a family whose daughter had been treated with the gene therapy and were encouraged by the progress she had made.
The Spinraza trial was underway in Chicago, several hours from their home in Mansfield, Ohio. Participating would have separated Tina and baby Malachi from his family, including his father and five siblings, to undergo treatments, Tina Anderson said.
In addition, some patients in the trial were receiving a placebo as a comparison, a risk she didn't want to take.
"I didn't want to have to depart from our family," she said. "Was it worth me going if he didn't get the drug?"
A Biogen spokeswoman said that more than 7,500 people with SMA have been helped by Spinraza, and that it is the only treatment available for a broad age range of patients. It has more than 300 patients who have been followed for up to six years.
An hour from their home, Nationwide Children's Hospital in Columbus, Ohio had enrolled just over a dozen patients in the first SMA gene therapy trial. "If this worked, our son would have a chance at a life," she recounted.
After passing several screenings, Malachi was chosen as patient number 14, making him one of the last to enter that trial. Within weeks, he received the treatment, an hour-long infusion, cradled in his mother's arms.
Tina said she was confident of the choice they had made that day, despite the many unknowns of an experimental treatment.
"I don’t think we had much fear going into it. We had prayed about it," she said. The next day reality hit. Tina described shaking and vomiting, overwhelmed with the idea that "we just got something really huge" in a therapy so new.
Malachi will turn four this summer. He cannot walk or crawl but can propel himself in a wheelchair and has learned other maneuvers, such as climbing down off the couch, Torence Anderson said. He enjoys going to school and sharing meals with his family, including his favorite food: cheeseburgers.
The Andersons say he is gaining strength in regular PT sessions and are hopeful he will be even more mobile. So far they are not looking for treatment beyond Zolgensma, but are paying attention to the new drugs in development for SMA.
"There's not a whole lot of definitive information on this is what we should be doing, this is what needs to happen," Torence said. "We are hoping the decisions that we are making are the right decisions."
As part of a clinical trial, the Andersons received Zolgensma at no cost. It is unclear how much patients will now pay for the therapy under their insurance plans or if they do not have insurance.
Ahead of the approval, some payers had told Reuters that they were concerned about being able to afford a new generation of million dollar treatments like Zolgensma. Gene therapies are also being tested to treat hemophilia and Duchenne muscular dystrophy, another rare disorder.
On Friday, Novartis said it had signed a deal with Cigna Corp's specialty pharmacy and distribution units. The agreement will allow small insurers and employers the ability to pay over five years, Cigna Chief Clinical Officer Steve Miller said in an interview.
They are also working on a payment structure that would enable payers to be compensated if patients receiving the treatment do not meet agreed upon thresholds, Miller said.
Dave Lennon, head of Novartis' AveXis unit which developed Zolgensma, said that the largest health insurers, such as Aetna Inc, UnitedHealth Group and Anthem Inc, are likely to cover the therapy in one payment. Smaller regional insurers and employers would likely be interested in pay-over-time deals, Lennon said in an interview.
Miller said the employers who hire Cigna to manage prescription drug benefits for their workers are worried about gene therapy costs. On the other hand, he said, the treatment has saved the lives of children.
"I believe there is enough money in the healthcare system to make it work," Miller said. (Reporting by Caroline Humer; Editing by Michele Gershberg and Susan Thomas)