Author Archives: BNS Staff

Gene therapy that increased the production of a protein called DOK7 in a spinal muscular atrophy (SMA) mouse model was found to improve the neuromuscular junction structure, reduce muscle fiber loss, improve grip strength, and extend survival.  These study findings suggest that DOK7…

Treatment with the molecule 4-aminopyridine (4-AP) failed to improve the motor function, endurance, and muscle strength of spinal muscular atrophy (SMA) type 3 patients who are able to walk, according to results from a small Phase 2/3 clinical trial.  Findings from the trial…

The U.S. Food and Drug Administration (FDA) has granted the designation of rare pediatric disease to SRK-015, an investigational treatment for spinal muscular atrophy (SMA), its developer, Scholar Rock, announced. This designation is given to therapies that are intended to treat serious or life-threatening disorders…

Increasing the levels of brain-derived neurotrophic factor (BDNF) — a molecule involved in the communication between nerve cells and muscle — specifically in muscle delayed symptom onset and slowed disease progression in a mouse model of spinal and bulbar muscular atrophy (SBMA), a study has found. BDNF’s benefits…

Treatment combinations, including future muscle-targeted therapies, are part of what likely lies ahead for spinal muscular atrophy (SMA), according to experts in the SMA community. In separate interviews with SMA News Today, Richard Finkel and Laurent…

Years of treatment with Spinraza (nusinersen) show sustained effectiveness, from motor skill gains to disease stabilization, and continued safety across a broad range of spinal muscular atrophy (SMA) patients, from toddlers to young adults, updated findings from the SHINE study show. The greatest benefits were among children with…

A planned six-month interim analysis of a Phase 2 study of SRK-015 in children and adults with spinal muscular atrophy (SMA) will be delayed by about three months due to the COVID-19 pandemic, with early data now expected by year’s end, Scholar Rock announced. The TOPAZ clinical trial…

This month has seen a surge of publications focused on SMA treatments, with a trend towards optimizing various aspects of nusinersen treatment. Research has also continued in areas related to molecular mechanisms of the disease, clinical manifestations, and management protocols.  Here’s a roundup of the latest in SMA research…

Understanding SMA Stasimon contributes to the loss of sensory synapses and motor neuron death in a mouse model of spinal muscular atrophy.1 In this paper, the authors elucidate a mechanism of the motor neuron degeneration that occurs in SMA. Specifically, the authors found that dysfunction of Stasimon, a protein of…

2019 was a year of significant progress in our understanding of SMA and how to best address it – clinically and otherwise. Below is a roundup of some of the final SMA data shared in late 2019. Understanding SMA The classical complement pathway mediates microglia-dependent remodeling of spinal motor circuits…