News

SMA newborn screening seen as cost effective in real-world terms

The start of a newborn screening (NBS) program for spinal muscular atrophy (SMA), allowing early treatment for infants found to have the disease, added to healthy years of life for patients in Belgium, according to a real-world analysis of its cost-effectiveness. “Spinal muscular atrophy newborn screening coupled with early…

Gene editing of SMN2 leads to normal SMN protein levels: Study

Researchers in the U.S. report using a gene-editing method to alter the SMN2 gene sequence, leading to normal levels of the survival motor neuron (SMN) — the protein that is lacking in spinal muscular atrophy — in early studies. These results were obtained in a cell line derived from…

Heart marker troponin-I best tested in each SMA newborn: Study

Blood levels of troponin-I, a marker for heart muscle damage, are best measured before and after gene therapy in each newborn with spinal muscular atrophy (SMA), a new study concluded. Although elevated troponin-I has been associated with SMA gene therapy, levels above the reference values generated from adults…

Revvity launches platform for streamlined newborn screening

Revvity has launched its EONIS Q system for faster and simplified newborn molecular screening of spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID), the company announced. According to Revvity, this easy-to-use platform reduces the complexity and costs for laboratories, so they can expand newborn screening capabilities.