Showing 257 results for "newborn screening"

DMTs may reduce risk of children’s bone fractures in SMA: Study

Disease-modifying therapies (DMTs) may help lower the risk of children’s bone fractures among young patients with spinal muscular atrophy (SMA), a study by U.S. researchers suggests. “Drug therapy led to a decrease in fracture occurrence,” the scientists wrote, noting that “patients on treatment had fewer fractures compared [with] pretreatment.”…

Swallowing problems common in untreated SMA type 1 infants

Profound deficits in mechanisms essential for swallowing are common among untreated infants with spinal muscular atrophy (SMA) type 1, according to a natural history study. While nearly all the babies could initiate the swallowing process, problems in the transfer of food or liquids from the throat into the esophagus…

Evrysdi OK’d for presymptomatic babies under 2 months in Japan

The Ministry of Health, Labour, and Welfare (MHLW) in Japan has extended the approval of Evrysdi (risdiplam) for infants genetically diagnosed with spinal muscular atrophy (SMA) who are younger than 2 months and haven’t yet had symptoms. With this extension, the treatment is now available for patients of…

SMA treatment Zolgensma seen to benefit patients in real world

Treatment with Zolgensma (onasemnogene abeparvovec-xioi) improves motor function in children with spinal muscular atrophy (SMA) who carry at least four copies of the so-called backup SMN2 gene, according to real-world data from the RESTORE patient registry. SMA children treated with the approved gene therapy achieved several motor milestones…

SMA prevalence at birth lower than thought, US study says

The prevalence of spinal muscular atrophy (SMA) at birth in the U.S. is lower than the historic global SMA birth prevalence estimate, according to data from newborn screening programs from 30 U.S. states. The findings were published as a research letter, “Newborn Screening and Birth Prevalence for Spinal…