Author Archives: Lindsey Shapiro PhD

Technique simplifies, accelerates newborn screening process

Researchers in Turkey have developed a new method for screening newborn blood samples for mutations associated with spinal muscular atrophy (SMA). Compared with standard techniques, the new method showed 100% accuracy for detecting SMA-positive and negative samples, they said. The scientists believe their approach, which is simpler and…

Economic burden shifting in US after arrival of SMA treatments

Children with spinal muscular atrophy (SMA) treated with Zolgensma (onasemnogene abeparvovec) used fewer healthcare resources and had lower medical costs than children on Spinraza (nusinersen), but they had higher SMA treatment costs, according to a recent U.S. analysis. Overall, healthcare costs for SMA patients using these…

New HDAC inhibitor AR42 shows promise in SMA mouse model

A histone deacetylase (HDAC) enzyme inhibitor called AR42 was found to prolong survival and ease motor symptoms in a mouse model of spinal muscular atrophy (SMA). While scientists initially expected the experimental molecule to show benefits by helping to boost levels of the SMN protein that’s deficient in…