The New England Newborn Screening Program, operated by UMass Medical School for the Massachusetts Department of Public Health, will begin a voluntary pilot screening program for spinal muscular atrophy (SMA), as a result of the availability of a new FDA-approved therapy for the genetic disorder. The scientific, economic and public policy issues surrounding screening for SMA and the availability of the expensive new therapy were reported on by WBUR’s Bostonomix blog on June 29.
SMA, an inherited disease that afflicts about one in 10,000 babies, according to the nonprofit group Cure SMA, destroys the motor neurons that control movement. Children with SMA1—the worst form of the disease that accounts for about 60 percent of the cases—often die before the age of two as their muscles deteriorate to the point that they can no longer breathe on their own or swallow.
The new drug to treat SMA, Spinraza, was approved by the U.S. Food and Drug Administration in December and by the European Union this month. Clinical trials found the drug helped improve some children’s motor function compared to untreated children, and some children with SMA achieved milestones such as ability to sit, stand or walk when they would otherwise not be able to do so. And “a greater percentage of patients on Spinraza survived compared to untreated patients,” the company reported.
The cost of the medication, which is delivered through an injection into the fluid surrounding the spinal cord, is about $750,000 the first year for six doses, and $375,000 each year after that. In April, Biogen reported first quarter sales of Spinraza at $47 million. The current thinking is that children with the disease will have to take Spinraza for their entire lives.
In Massachusetts, the Department of Public Health is preparing to launch a voluntary pilot SMA screening program that could begin this fall, officials say.
Anne Marie Comeau, PhD, deputy director of the New England Newborn Screening Program and a professor of pediatrics at the medical school, said every parent of a newborn will be asked if they want their child screened for SMA using the same heel prick sample taken for other newborn tests.
“Our plan is to offer SMA newborn screening to the entire birth population of Massachusetts sometime later this fall and evidence will be collected and clinicians will be available to see the babies that need to be seen,” Dr. Comeau said. “Hopefully the benefit will prove to be as fruitful as all of us hoped and we’ll go from there.”
UMass Medical School’s New England Newborn Screening Program has operated the Massachusetts newborn screening program since 1997. In addition to Massachusetts, the program runs metabolic and genetic newborn screening for Maine, New Hampshire, Rhode Island and Vermont.