SMA3d
Spinal cord gray matter may be imaging marker of SMA types 2, 3
More research is needed to confirm gray matter, the darker tissue found in the brain and spinal cord, “as a potential disease ...
360dx7d
MRC Holland Gains IVDR Certification for Spinal Muscular Atrophy Newborn Screening Test
The Amsterdam-based biotech firm said that its melt curve analysis-based test is used as a first-tier genetic screening tool to aid the diagnosis of SMA.
Nature1y
The survival motor neurons protein uses its ZPR for nuclear localization
Spinal muscular atrophy is caused by mutations in the survival motor neurons gene, SMN1. The SMN protein localizes to both the cytoplasm and the nuclear bodies. One hallmark of spinal muscular ...
pharmaphorum2y
Time is motor neurons – the importance of newborn screening in SMA
Spinal muscular atrophy (SMA) is a devastating, genetic neuromuscular disease caused by a lack of a functional SMN1 gene that results ... to the copy number of the SMN2 gene, which produces ...
SMA14d
Blood creatinine levels may best mark progression, therapy response
Creatinine, a byproduct of muscle function, may be more sensitive in tracking SMA progression and response to treatment than ...
Hosted on MSN29d
Novartis' Gene Therapy Meets Primary Endpoint in SMA Study
Intrathecal onasemnogene abeparvovec (OAV101IT) is an investigational, one-time gene therapy for patients with spinal muscular atrophy (SMA ... a lack of a functional SMN1 gene, results in ...
pharmaphorum1d
Novartis offers reimbursement options as EU backs costly SMA therapy
Novartis’ AveXis unit has said European regulators have approved its Zolgensma (onasemnogene abeparvovec) gene therapy for the rare childhood wasting disease spinal muscular atrophy (SMA), and ...