Desperate Families Pursue 'N-of-1' Trials for Ultra-Rare Diseases

While ASO technology is amenable to personalized therapeutics, it's an option only for families who can raise hundreds of thousands of dollars.

Steve Joffe, MD, MPH, chief of medical ethics at the University of Pennsylvania Perelman School of Medicine, said there's no "realistic alternative" to funding these efforts, since they're more an "attempt to do something highly novel and unproven in hopes of benefiting an individual patient."

"We all have a moral right to medical care that has been proven effective, and so there is a collective responsibility to pay for that care," Joffe said. "But we don't have a right to collective payment for unproven treatments, which means that we don't have a right to have someone else pay for n-of-1 trials."

The hope, Margus said, is that "by doing many of these, we're going to get faster and cheaper so ultimately you can make a personalized drug for each kid who has a different mutation, and you won't have all the expense of development."

He expects that as more ASO therapies are approved, "manufacturing capacity will increase and competition, as well as economies of scale, will drive costs down."