Medicine was revolutionized in the 20th century by the discovery that inherited human diseases were caused by mutations or variations in individual genes. Not long after that, molecular biology advanced to the point of routine gene transfer into cells, in no small part due to the discovery that Nature had provided us with ideal gene transfer vehicles: certain viruses. It didn’t take long for scientists to put two and two together and start dreaming of using those viruses to simply replace the defective gene in inherited diseases with a normal one. Simple right?
Well not so much. 30 years and many spectacular failures later, the very first gene therapy product was approved by the FDA (in 2017) for a rare congenital blindness condition. However, this therapy required injection of the engineered adenovirus-like virus vector INTO THE EYEBALL. Yuck. Seems like a paltry payoff for trillions of research dollars, tons of failed clinical trials and hordes of unemployable scientists.
Indeed, the vision was of a more routine injection and for a more life-threatening disease. Well, the day has finally come. Novartis’ gene therapy for spinal muscular atrophy (SMA) was just approved, and yes, it's a regular old IV drug given to babies who had been destined for iron lungs. And the results may bring tears to your eyes. The trial was not placebo controlled due to the rarity of the condition and ethical issues, but there is no question that these babies have way more motor function than their untreated historical comparators with SMA who pretty much all ended up on assisted ventilation within a year or two. These kids can breathe on their own and some are able to sit up and more. And it's early yet. It's possible that the effects could last a lifetime for a single treatment before 6 months of age. Miraculous. Well, except for the price. What’s a life worth? Novartis thinks $2 million. Indeed, the alternative is Biogen’s small molecule drug which has to be taken forever and ends up costing $4 million for 10 years of use. Hard to say, except that it's a brave new world, where haggling over the price is, of course, way better than haggling over when to take an infant off a ventilator.