Biotech Companies Race to Bring Gene Therapies to Market, While States are too Slow to AdoptThe US Health and Human Services Secretary Alex Azar has approved adding a test for spinal muscular atrophy (SMA) to the list of recommended newborn screens in the United States. The announcement comes after a patient advocacy group, Cure SMA, campaigned for the condition to be added to the Recommended Uniform Screening Panel (RUSP).

“The approval of this recommendation is an important step toward our goal of having every baby born in the United States screened for SMA,” said Jill Jarecki, PhD, Chief Scientific Officer at Cure SMA. “Newborn screening and early treatment will save the lives of babies born with SMA. SMA is currently the leading genetic cause of death for infants under two years of age, but we now have an historic opportunity to change that.”

SMA is a fatal genetic disorder that causes major motor neuron damage in the brain stem and spinal cord, ultimately causing the respiratory muscles to fail in early childhood. The rarity of the condition and the lack of effective treatments has meant that it has gone largely untested for in newborns, as there was limited value in it.

However, a year and a half ago, the US Food and Drug Administration (FDA) approved the use of a new SMA medicine called Spinraza, which restores one of the core proteins missing in SMA patients. The therapy offered new hope to parents whose children were affected by SMA, presenting them with a treatment that has the potential to stave off neuron degradation and death. In order for the treatment to be most effective, however, it needs to be started as early in development as possible, to prevent neuron death.

Biotech Companies Race to Bring Gene Therapies to Market, While States Are Too Slow To Adopt

It was this that prompted advocacy groups to reach out to Azar for the recommendation. With it, healthcare centres across the United States are being prompted to add the test to the 34 other conditions that are implicated in regular newborn screening processes.

The test itself is inexpensive, costing between $1 and $5 per newborn (in contrast, the drug is a significant cost consideration, priced at $750,000 for the first year and $350,000 each year after). Cost is not the only consideration, however; any recommended screens need to have demonstrated an advantage to patient healthcare outcomes. In the case of SMA, the data used for the campaign was taken from the as-yet-unpublished NURTURE trial from Biogen, which is testing Spinraza in 25 newborns with some early success.

According to a statement from Cure SMA, four states have already adopted the novel format for newborn screening (Indiana, Minnesota, Missouri, and Utah), with an additional five soon to enter pilot screening (Georgia, Massachusetts, New York, North Carolina, and Wisconsin).

The statement concludes by recognising those who enabled this recommendation to happen. “We would specifically like to thank and acknowledge the families who have testified in support of this nomination,” it reads. “Thank you to Kristen Lasko, Amy Medina, Beth Moore, Debra Schaefer, and Cheryl Yoder for sharing your stories. Thank you to Drs. Tom Crawford, Darryl DeVivo, and Kathy Swoboda, who also testified in support of the nomination.

“We thank the committee for their careful consideration of the SMA nomination, and Secretary Azar for his timely approval. We also thank the working group who assembled the nomination packet.

“We thank our partners in the SMA Newborn Screening Coalition—Biogen, AveXis, and Genentech/Roche—for their support of this important issue.”