That means identifying patients as soon as possible—ideally at birth. Finding them early could mean the difference between life and death. But as AveXis and other biotech companies race to bring transformative gene therapies to market, states have been slow to adopt screening tests for genetic diseases that are, increasingly, treatable.
Newborn screening tests in the US cover a minimum of 34 disorders, and many states have opted to add more. Yet most don’t look for spinal muscular atrophy (commonly abbreviated as SMA), even though it’s the leading genetic cause of infant death. About 400 babies in the US are born with it every year. AveXis’s therapy is for the most common form, type 1.
For parents of children with SMA, like Krystal Davis, newborn screening means giving those with the condition as close to a normal life as possible.